From c1e8f5f2a3154580e15227fbef57055088e3f11e Mon Sep 17 00:00:00 2001 From: Michael Baudis <675030+mbaudis@users.noreply.github.com> Date: Tue, 31 Oct 2023 17:16:54 +0100 Subject: [PATCH] Update variant-queries.md --- docs/variant-queries.md | 42 +++++++++++++++++++++++++++++++++++------ 1 file changed, 36 insertions(+), 6 deletions(-) diff --git a/docs/variant-queries.md b/docs/variant-queries.md index 656215cba..b12c0f7f8 100644 --- a/docs/variant-queries.md +++ b/docs/variant-queries.md @@ -186,6 +186,36 @@ a positional translation is being applied. ?geneId=EIF4A1&variantMaxLength=1000000&variantType=DEL ``` +=== "Beacon v2 POST for `geneId` (deletion CNV)" + + ``` + { + "$schema":"https://raw.githubusercontent.com/ga4gh-beacon/beacon-v2/main/framework/json/requests/beaconRequestBody.json", + "meta": { + "apiVersion": "2.0", + "requestedSchemas": [ + { + "entityType": "genomicVariation", + "schema:": "https://raw.githubusercontent.com/ga4gh-beacon/beacon-v2/main/models/json/beacon-v2-default-model/genomicVariations/defaultSchema.json" + } + ] + }, + "query": { + "requestParameters": { + "g_variant": + "geneId": "EIF4A1", + "variantType": "EFO:0030067" + } + } + }, + "requestedGranularity": "record", + "pagination": { + "skip": 0, + "limit": 5 + } + } + ``` + ## Beacon _Bracket Queries_ @@ -292,27 +322,27 @@ larger than approx. 5Mb (operational definitions of focality vary between 1 and ## Genomic Allele Query (Short Form) -==TBD== +When available variants can be identified through their genomic HGVS short form. === "Beacon v2 GET" ``` - ?allele=NM_004006.2:c.4375C>T + ?genomicAlleleShortForm=NM_004006.2:c.4375C>T ``` - ==to be completed== ## Aminoacid Change Query -==TBD== +Annotated variants can potentiallyqueried using the single amino acid replacement +format. The `aminoacidChange` parameter may be combined with e.g. a `geneId` to increase +specificity === "Beacon v2 GET" ``` - ?aminoacidChange=V600E + ?aminoacidChange=V600E&geneId=BRAF ``` - ==to be completed== ## `variantType` Parameter Interpretation