mirror of
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673 lines
25 KiB
Protocol Buffer
673 lines
25 KiB
Protocol Buffer
// Copyright 2016 Google Inc.
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//
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// Licensed under the Apache License, Version 2.0 (the "License");
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// you may not use this file except in compliance with the License.
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// You may obtain a copy of the License at
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//
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// http://www.apache.org/licenses/LICENSE-2.0
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//
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// Unless required by applicable law or agreed to in writing, software
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// distributed under the License is distributed on an "AS IS" BASIS,
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// WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied.
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// See the License for the specific language governing permissions and
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// limitations under the License.
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syntax = "proto3";
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package google.genomics.v1;
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import "google/api/annotations.proto";
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import "google/protobuf/empty.proto";
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import "google/protobuf/field_mask.proto";
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import "google/protobuf/struct.proto";
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import "google/protobuf/wrappers.proto";
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import "google/rpc/status.proto";
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option cc_enable_arenas = true;
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option go_package = "google.golang.org/genproto/googleapis/genomics/v1;genomics";
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option java_multiple_files = true;
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option java_outer_classname = "AnnotationsProto";
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option java_package = "com.google.genomics.v1";
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// This service provides storage and positional retrieval of genomic
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// reference annotations, including variant annotations.
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service AnnotationServiceV1 {
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// Creates a new annotation set. Caller must have WRITE permission for the
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// associated dataset.
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//
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// The following fields are required:
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//
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// * [datasetId][google.genomics.v1.AnnotationSet.dataset_id]
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// * [referenceSetId][google.genomics.v1.AnnotationSet.reference_set_id]
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//
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// All other fields may be optionally specified, unless documented as being
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// server-generated (for example, the `id` field).
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rpc CreateAnnotationSet(CreateAnnotationSetRequest) returns (AnnotationSet) {
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option (google.api.http) = { post: "/v1/annotationsets" body: "annotation_set" };
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}
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// Gets an annotation set. Caller must have READ permission for
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// the associated dataset.
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rpc GetAnnotationSet(GetAnnotationSetRequest) returns (AnnotationSet) {
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option (google.api.http) = { get: "/v1/annotationsets/{annotation_set_id}" };
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}
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// Updates an annotation set. The update must respect all mutability
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// restrictions and other invariants described on the annotation set resource.
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// Caller must have WRITE permission for the associated dataset.
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rpc UpdateAnnotationSet(UpdateAnnotationSetRequest) returns (AnnotationSet) {
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option (google.api.http) = { put: "/v1/annotationsets/{annotation_set_id}" body: "annotation_set" };
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}
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// Deletes an annotation set. Caller must have WRITE permission
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// for the associated annotation set.
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rpc DeleteAnnotationSet(DeleteAnnotationSetRequest) returns (google.protobuf.Empty) {
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option (google.api.http) = { delete: "/v1/annotationsets/{annotation_set_id}" };
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}
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// Searches for annotation sets that match the given criteria. Annotation sets
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// are returned in an unspecified order. This order is consistent, such that
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// two queries for the same content (regardless of page size) yield annotation
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// sets in the same order across their respective streams of paginated
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// responses. Caller must have READ permission for the queried datasets.
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rpc SearchAnnotationSets(SearchAnnotationSetsRequest) returns (SearchAnnotationSetsResponse) {
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option (google.api.http) = { post: "/v1/annotationsets/search" body: "*" };
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}
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// Creates a new annotation. Caller must have WRITE permission
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// for the associated annotation set.
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//
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// The following fields are required:
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//
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// * [annotationSetId][google.genomics.v1.Annotation.annotation_set_id]
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// * [referenceName][google.genomics.v1.Annotation.reference_name] or
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// [referenceId][google.genomics.v1.Annotation.reference_id]
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//
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// ### Transcripts
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//
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// For annotations of type TRANSCRIPT, the following fields of
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// [transcript][google.genomics.v1.Annotation.transcript] must be provided:
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//
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// * [exons.start][google.genomics.v1.Transcript.Exon.start]
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// * [exons.end][google.genomics.v1.Transcript.Exon.end]
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//
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// All other fields may be optionally specified, unless documented as being
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// server-generated (for example, the `id` field). The annotated
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// range must be no longer than 100Mbp (mega base pairs). See the
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// [Annotation resource][google.genomics.v1.Annotation]
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// for additional restrictions on each field.
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rpc CreateAnnotation(CreateAnnotationRequest) returns (Annotation) {
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option (google.api.http) = { post: "/v1/annotations" body: "annotation" };
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}
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// Creates one or more new annotations atomically. All annotations must
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// belong to the same annotation set. Caller must have WRITE
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// permission for this annotation set. For optimal performance, batch
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// positionally adjacent annotations together.
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//
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// If the request has a systemic issue, such as an attempt to write to
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// an inaccessible annotation set, the entire RPC will fail accordingly. For
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// lesser data issues, when possible an error will be isolated to the
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// corresponding batch entry in the response; the remaining well formed
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// annotations will be created normally.
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//
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// For details on the requirements for each individual annotation resource,
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// see
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// [CreateAnnotation][google.genomics.v1.AnnotationServiceV1.CreateAnnotation].
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rpc BatchCreateAnnotations(BatchCreateAnnotationsRequest) returns (BatchCreateAnnotationsResponse) {
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option (google.api.http) = { post: "/v1/annotations:batchCreate" body: "*" };
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}
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// Gets an annotation. Caller must have READ permission
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// for the associated annotation set.
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rpc GetAnnotation(GetAnnotationRequest) returns (Annotation) {
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option (google.api.http) = { get: "/v1/annotations/{annotation_id}" };
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}
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// Updates an annotation. Caller must have
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// WRITE permission for the associated dataset.
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rpc UpdateAnnotation(UpdateAnnotationRequest) returns (Annotation) {
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option (google.api.http) = { put: "/v1/annotations/{annotation_id}" body: "annotation" };
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}
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// Deletes an annotation. Caller must have WRITE permission for
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// the associated annotation set.
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rpc DeleteAnnotation(DeleteAnnotationRequest) returns (google.protobuf.Empty) {
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option (google.api.http) = { delete: "/v1/annotations/{annotation_id}" };
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}
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// Searches for annotations that match the given criteria. Results are
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// ordered by genomic coordinate (by reference sequence, then position).
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// Annotations with equivalent genomic coordinates are returned in an
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// unspecified order. This order is consistent, such that two queries for the
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// same content (regardless of page size) yield annotations in the same order
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// across their respective streams of paginated responses. Caller must have
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// READ permission for the queried annotation sets.
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rpc SearchAnnotations(SearchAnnotationsRequest) returns (SearchAnnotationsResponse) {
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option (google.api.http) = { post: "/v1/annotations/search" body: "*" };
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}
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}
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// An annotation set is a logical grouping of annotations that share consistent
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// type information and provenance. Examples of annotation sets include 'all
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// genes from refseq', and 'all variant annotations from ClinVar'.
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message AnnotationSet {
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// The server-generated annotation set ID, unique across all annotation sets.
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string id = 1;
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// The dataset to which this annotation set belongs.
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string dataset_id = 2;
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// The ID of the reference set that defines the coordinate space for this
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// set's annotations.
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string reference_set_id = 3;
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// The display name for this annotation set.
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string name = 4;
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// The source URI describing the file from which this annotation set was
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// generated, if any.
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string source_uri = 5;
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// The type of annotations contained within this set.
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AnnotationType type = 6;
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// A map of additional read alignment information. This must be of the form
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// map<string, string[]> (string key mapping to a list of string values).
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map<string, google.protobuf.ListValue> info = 17;
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}
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// An annotation describes a region of reference genome. The value of an
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// annotation may be one of several canonical types, supplemented by arbitrary
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// info tags. An annotation is not inherently associated with a specific
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// sample or individual (though a client could choose to use annotations in
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// this way). Example canonical annotation types are `GENE` and
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// `VARIANT`.
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message Annotation {
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// The server-generated annotation ID, unique across all annotations.
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string id = 1;
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// The annotation set to which this annotation belongs.
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string annotation_set_id = 2;
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// The display name of this annotation.
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string name = 3;
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// The ID of the Google Genomics reference associated with this range.
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string reference_id = 4;
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// The display name corresponding to the reference specified by
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// `referenceId`, for example `chr1`, `1`, or `chrX`.
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string reference_name = 5;
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// The start position of the range on the reference, 0-based inclusive.
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int64 start = 6;
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// The end position of the range on the reference, 0-based exclusive.
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int64 end = 7;
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// Whether this range refers to the reverse strand, as opposed to the forward
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// strand. Note that regardless of this field, the start/end position of the
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// range always refer to the forward strand.
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bool reverse_strand = 8;
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// The data type for this annotation. Must match the containing annotation
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// set's type.
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AnnotationType type = 9;
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oneof value {
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// A variant annotation, which describes the effect of a variant on the
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// genome, the coding sequence, and/or higher level consequences at the
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// organism level e.g. pathogenicity. This field is only set for annotations
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// of type `VARIANT`.
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VariantAnnotation variant = 10;
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// A transcript value represents the assertion that a particular region of
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// the reference genome may be transcribed as RNA. An alternative splicing
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// pattern would be represented as a separate transcript object. This field
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// is only set for annotations of type `TRANSCRIPT`.
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Transcript transcript = 11;
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}
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// A map of additional read alignment information. This must be of the form
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// map<string, string[]> (string key mapping to a list of string values).
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map<string, google.protobuf.ListValue> info = 12;
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}
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message VariantAnnotation {
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message ClinicalCondition {
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// A set of names for the condition.
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repeated string names = 1;
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// The set of external IDs for this condition.
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repeated ExternalId external_ids = 2;
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// The MedGen concept id associated with this gene.
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// Search for these IDs at http://www.ncbi.nlm.nih.gov/medgen/
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string concept_id = 3;
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// The OMIM id for this condition.
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// Search for these IDs at http://omim.org/
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string omim_id = 4;
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}
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enum Type {
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TYPE_UNSPECIFIED = 0;
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// `TYPE_OTHER` should be used when no other Type will suffice.
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// Further explanation of the variant type may be included in the
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// [info][google.genomics.v1.Annotation.info] field.
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TYPE_OTHER = 1;
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// `INSERTION` indicates an insertion.
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INSERTION = 2;
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// `DELETION` indicates a deletion.
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DELETION = 3;
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// `SUBSTITUTION` indicates a block substitution of
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// two or more nucleotides.
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SUBSTITUTION = 4;
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// `SNP` indicates a single nucleotide polymorphism.
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SNP = 5;
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// `STRUCTURAL` indicates a large structural variant,
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// including chromosomal fusions, inversions, etc.
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STRUCTURAL = 6;
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// `CNV` indicates a variation in copy number.
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CNV = 7;
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}
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enum Effect {
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EFFECT_UNSPECIFIED = 0;
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// `EFFECT_OTHER` should be used when no other Effect
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// will suffice.
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EFFECT_OTHER = 1;
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// `FRAMESHIFT` indicates a mutation in which the insertion or
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// deletion of nucleotides resulted in a frameshift change.
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FRAMESHIFT = 2;
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// `FRAME_PRESERVING_INDEL` indicates a mutation in which a
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// multiple of three nucleotides has been inserted or deleted, resulting
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// in no change to the reading frame of the coding sequence.
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FRAME_PRESERVING_INDEL = 3;
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// `SYNONYMOUS_SNP` indicates a single nucleotide polymorphism
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// mutation that results in no amino acid change.
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SYNONYMOUS_SNP = 4;
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// `NONSYNONYMOUS_SNP` indicates a single nucleotide
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// polymorphism mutation that results in an amino acid change.
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NONSYNONYMOUS_SNP = 5;
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// `STOP_GAIN` indicates a mutation that leads to the creation
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// of a stop codon at the variant site. Frameshift mutations creating
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// downstream stop codons do not count as `STOP_GAIN`.
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STOP_GAIN = 6;
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// `STOP_LOSS` indicates a mutation that eliminates a
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// stop codon at the variant site.
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STOP_LOSS = 7;
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// `SPLICE_SITE_DISRUPTION` indicates that this variant is
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// found in a splice site for the associated transcript, and alters the
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// normal splicing pattern.
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SPLICE_SITE_DISRUPTION = 8;
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}
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enum ClinicalSignificance {
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CLINICAL_SIGNIFICANCE_UNSPECIFIED = 0;
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// `OTHER` should be used when no other clinical significance
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// value will suffice.
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CLINICAL_SIGNIFICANCE_OTHER = 1;
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UNCERTAIN = 2;
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BENIGN = 3;
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LIKELY_BENIGN = 4;
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LIKELY_PATHOGENIC = 5;
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PATHOGENIC = 6;
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DRUG_RESPONSE = 7;
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HISTOCOMPATIBILITY = 8;
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CONFERS_SENSITIVITY = 9;
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RISK_FACTOR = 10;
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ASSOCIATION = 11;
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PROTECTIVE = 12;
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// `MULTIPLE_REPORTED` should be used when multiple clinical
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// signficances are reported for a variant. The original clinical
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// significance values may be provided in the `info` field.
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MULTIPLE_REPORTED = 13;
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}
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// Type has been adapted from ClinVar's list of variant types.
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Type type = 1;
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// Effect of the variant on the coding sequence.
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Effect effect = 2;
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// The alternate allele for this variant. If multiple alternate alleles
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// exist at this location, create a separate variant for each one, as they
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// may represent distinct conditions.
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string alternate_bases = 3;
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// Google annotation ID of the gene affected by this variant. This should
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// be provided when the variant is created.
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string gene_id = 4;
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// Google annotation IDs of the transcripts affected by this variant. These
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// should be provided when the variant is created.
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repeated string transcript_ids = 5;
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// The set of conditions associated with this variant.
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// A condition describes the way a variant influences human health.
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repeated ClinicalCondition conditions = 6;
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// Describes the clinical significance of a variant.
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// It is adapted from the ClinVar controlled vocabulary for clinical
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// significance described at:
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// http://www.ncbi.nlm.nih.gov/clinvar/docs/clinsig/
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ClinicalSignificance clinical_significance = 7;
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}
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// A transcript represents the assertion that a particular region of the
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// reference genome may be transcribed as RNA.
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message Transcript {
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message Exon {
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// The start position of the exon on this annotation's reference sequence,
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// 0-based inclusive. Note that this is relative to the reference start, and
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// **not** the containing annotation start.
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int64 start = 1;
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// The end position of the exon on this annotation's reference sequence,
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// 0-based exclusive. Note that this is relative to the reference start, and
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// *not* the containing annotation start.
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int64 end = 2;
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// The frame of this exon. Contains a value of 0, 1, or 2, which indicates
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// the offset of the first coding base of the exon within the reading frame
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// of the coding DNA sequence, if any. This field is dependent on the
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// strandedness of this annotation (see
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// [Annotation.reverse_strand][google.genomics.v1.Annotation.reverse_strand]).
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// For forward stranded annotations, this offset is relative to the
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// [exon.start][google.genomics.v1.Transcript.Exon.start]. For reverse
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// strand annotations, this offset is relative to the
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// [exon.end][google.genomics.v1.Transcript.Exon.end] `- 1`.
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//
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// Unset if this exon does not intersect the coding sequence. Upon creation
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// of a transcript, the frame must be populated for all or none of the
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// coding exons.
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google.protobuf.Int32Value frame = 3;
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}
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message CodingSequence {
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// The start of the coding sequence on this annotation's reference sequence,
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// 0-based inclusive. Note that this position is relative to the reference
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// start, and *not* the containing annotation start.
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int64 start = 1;
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// The end of the coding sequence on this annotation's reference sequence,
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// 0-based exclusive. Note that this position is relative to the reference
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// start, and *not* the containing annotation start.
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int64 end = 2;
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}
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// The annotation ID of the gene from which this transcript is transcribed.
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string gene_id = 1;
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// The <a href="http://en.wikipedia.org/wiki/Exon">exons</a> that compose
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// this transcript. This field should be unset for genomes where transcript
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// splicing does not occur, for example prokaryotes.
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//
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// Introns are regions of the transcript that are not included in the
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// spliced RNA product. Though not explicitly modeled here, intron ranges can
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// be deduced; all regions of this transcript that are not exons are introns.
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//
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// Exonic sequences do not necessarily code for a translational product
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// (amino acids). Only the regions of exons bounded by the
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// [codingSequence][google.genomics.v1.Transcript.coding_sequence] correspond
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// to coding DNA sequence.
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//
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// Exons are ordered by start position and may not overlap.
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repeated Exon exons = 2;
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// The range of the coding sequence for this transcript, if any. To determine
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// the exact ranges of coding sequence, intersect this range with those of the
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// [exons][google.genomics.v1.Transcript.exons], if any. If there are any
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// [exons][google.genomics.v1.Transcript.exons], the
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// [codingSequence][google.genomics.v1.Transcript.coding_sequence] must start
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// and end within them.
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//
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// Note that in some cases, the reference genome will not exactly match the
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// observed mRNA transcript e.g. due to variance in the source genome from
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// reference. In these cases,
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// [exon.frame][google.genomics.v1.Transcript.Exon.frame] will not necessarily
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// match the expected reference reading frame and coding exon reference bases
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// cannot necessarily be concatenated to produce the original transcript mRNA.
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CodingSequence coding_sequence = 3;
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}
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message ExternalId {
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// The name of the source of this data.
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string source_name = 1;
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// The id used by the source of this data.
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string id = 2;
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}
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message CreateAnnotationSetRequest {
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// The annotation set to create.
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AnnotationSet annotation_set = 1;
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}
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message GetAnnotationSetRequest {
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// The ID of the annotation set to be retrieved.
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string annotation_set_id = 1;
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}
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message UpdateAnnotationSetRequest {
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// The ID of the annotation set to be updated.
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string annotation_set_id = 1;
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// The new annotation set.
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AnnotationSet annotation_set = 2;
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// An optional mask specifying which fields to update. Mutable fields are
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// [name][google.genomics.v1.AnnotationSet.name],
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// [source_uri][google.genomics.v1.AnnotationSet.source_uri], and
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// [info][google.genomics.v1.AnnotationSet.info]. If unspecified, all
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// mutable fields will be updated.
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google.protobuf.FieldMask update_mask = 3;
|
|
}
|
|
|
|
message DeleteAnnotationSetRequest {
|
|
// The ID of the annotation set to be deleted.
|
|
string annotation_set_id = 1;
|
|
}
|
|
|
|
message SearchAnnotationSetsRequest {
|
|
// Required. The dataset IDs to search within. Caller must have `READ` access
|
|
// to these datasets.
|
|
repeated string dataset_ids = 1;
|
|
|
|
// If specified, only annotation sets associated with the given reference set
|
|
// are returned.
|
|
string reference_set_id = 2;
|
|
|
|
// Only return annotations sets for which a substring of the name matches this
|
|
// string (case insensitive).
|
|
string name = 3;
|
|
|
|
// If specified, only annotation sets that have any of these types are
|
|
// returned.
|
|
repeated AnnotationType types = 4;
|
|
|
|
// The continuation token, which is used to page through large result sets.
|
|
// To get the next page of results, set this parameter to the value of
|
|
// `nextPageToken` from the previous response.
|
|
string page_token = 5;
|
|
|
|
// The maximum number of results to return in a single page. If unspecified,
|
|
// defaults to 128. The maximum value is 1024.
|
|
int32 page_size = 6;
|
|
}
|
|
|
|
message SearchAnnotationSetsResponse {
|
|
// The matching annotation sets.
|
|
repeated AnnotationSet annotation_sets = 1;
|
|
|
|
// The continuation token, which is used to page through large result sets.
|
|
// Provide this value in a subsequent request to return the next page of
|
|
// results. This field will be empty if there aren't any additional results.
|
|
string next_page_token = 2;
|
|
}
|
|
|
|
message CreateAnnotationRequest {
|
|
// The annotation to be created.
|
|
Annotation annotation = 1;
|
|
}
|
|
|
|
message BatchCreateAnnotationsRequest {
|
|
// The annotations to be created. At most 4096 can be specified in a single
|
|
// request.
|
|
repeated Annotation annotations = 1;
|
|
|
|
// A unique request ID which enables the server to detect duplicated requests.
|
|
// If provided, duplicated requests will result in the same response; if not
|
|
// provided, duplicated requests may result in duplicated data. For a given
|
|
// annotation set, callers should not reuse `request_id`s when writing
|
|
// different batches of annotations - behavior in this case is undefined.
|
|
// A common approach is to use a UUID. For batch jobs where worker crashes are
|
|
// a possibility, consider using some unique variant of a worker or run ID.
|
|
string request_id = 2;
|
|
}
|
|
|
|
message BatchCreateAnnotationsResponse {
|
|
message Entry {
|
|
// The creation status.
|
|
google.rpc.Status status = 1;
|
|
|
|
// The created annotation, if creation was successful.
|
|
Annotation annotation = 2;
|
|
}
|
|
|
|
// The resulting per-annotation entries, ordered consistently with the
|
|
// original request.
|
|
repeated Entry entries = 1;
|
|
}
|
|
|
|
message GetAnnotationRequest {
|
|
// The ID of the annotation to be retrieved.
|
|
string annotation_id = 1;
|
|
}
|
|
|
|
message UpdateAnnotationRequest {
|
|
// The ID of the annotation to be updated.
|
|
string annotation_id = 1;
|
|
|
|
// The new annotation.
|
|
Annotation annotation = 2;
|
|
|
|
// An optional mask specifying which fields to update. Mutable fields are
|
|
// [name][google.genomics.v1.Annotation.name],
|
|
// [variant][google.genomics.v1.Annotation.variant],
|
|
// [transcript][google.genomics.v1.Annotation.transcript], and
|
|
// [info][google.genomics.v1.Annotation.info]. If unspecified, all mutable
|
|
// fields will be updated.
|
|
google.protobuf.FieldMask update_mask = 3;
|
|
}
|
|
|
|
message DeleteAnnotationRequest {
|
|
// The ID of the annotation to be deleted.
|
|
string annotation_id = 1;
|
|
}
|
|
|
|
message SearchAnnotationsRequest {
|
|
// Required. The annotation sets to search within. The caller must have
|
|
// `READ` access to these annotation sets.
|
|
// All queried annotation sets must have the same type.
|
|
repeated string annotation_set_ids = 1;
|
|
|
|
// Required. `reference_id` or `reference_name` must be set.
|
|
oneof reference {
|
|
// The ID of the reference to query.
|
|
string reference_id = 2;
|
|
|
|
// The name of the reference to query, within the reference set associated
|
|
// with this query.
|
|
string reference_name = 3;
|
|
}
|
|
|
|
// The start position of the range on the reference, 0-based inclusive. If
|
|
// specified,
|
|
// [referenceId][google.genomics.v1.SearchAnnotationsRequest.reference_id] or
|
|
// [referenceName][google.genomics.v1.SearchAnnotationsRequest.reference_name]
|
|
// must be specified. Defaults to 0.
|
|
int64 start = 4;
|
|
|
|
// The end position of the range on the reference, 0-based exclusive. If
|
|
// [referenceId][google.genomics.v1.SearchAnnotationsRequest.reference_id] or
|
|
// [referenceName][google.genomics.v1.SearchAnnotationsRequest.reference_name]
|
|
// must be specified, Defaults to the length of the reference.
|
|
int64 end = 5;
|
|
|
|
// The continuation token, which is used to page through large result sets.
|
|
// To get the next page of results, set this parameter to the value of
|
|
// `nextPageToken` from the previous response.
|
|
string page_token = 6;
|
|
|
|
// The maximum number of results to return in a single page. If unspecified,
|
|
// defaults to 256. The maximum value is 2048.
|
|
int32 page_size = 7;
|
|
}
|
|
|
|
message SearchAnnotationsResponse {
|
|
// The matching annotations.
|
|
repeated Annotation annotations = 1;
|
|
|
|
// The continuation token, which is used to page through large result sets.
|
|
// Provide this value in a subsequent request to return the next page of
|
|
// results. This field will be empty if there aren't any additional results.
|
|
string next_page_token = 2;
|
|
}
|
|
|
|
// When an [Annotation][google.genomics.v1.Annotation] or
|
|
// [AnnotationSet][google.genomics.v1.AnnotationSet] is created, if `type` is
|
|
// not specified it will be set to `GENERIC`.
|
|
enum AnnotationType {
|
|
ANNOTATION_TYPE_UNSPECIFIED = 0;
|
|
|
|
// A `GENERIC` annotation type should be used when no other annotation
|
|
// type will suffice. This represents an untyped annotation of the reference
|
|
// genome.
|
|
GENERIC = 1;
|
|
|
|
// A `VARIANT` annotation type.
|
|
VARIANT = 2;
|
|
|
|
// A `GENE` annotation type represents the existence of a gene at the
|
|
// associated reference coordinates. The start coordinate is typically the
|
|
// gene's transcription start site and the end is typically the end of the
|
|
// gene's last exon.
|
|
GENE = 3;
|
|
|
|
// A `TRANSCRIPT` annotation type represents the assertion that a
|
|
// particular region of the reference genome may be transcribed as RNA.
|
|
TRANSCRIPT = 4;
|
|
}
|