"description":"To actually ask the beacon for questions like \"do you have any genomes with an 'A' at position 100,735 on chromosome 3?\" And the answer will be yes or no.",
"description":"To actually ask the beacon for questions like \\\"do you have any genomes with an \"A\" at position 100,735 on chromosome 3?\\\" And the answer will be yes or no.",
"parameters":[
{
"name":"chrom",
"name":"referenceName",
"in":"query",
"description":"Chromosome name. Accepted values are 1-22, X, Y and MT.",
"required":true,
"type":"string"
},
{
"name":"pos",
"name":"start",
"in":"query",
"description":"Coordinate within a chromosome (0-based)",
"description":"Position, allele locus (0-based). Accepted values: non-negative integers smaller than reference length.",
"required":true,
"type":"number"
},
{
"name":"assembly",
"name":"assemblyId",
"in":"query",
"description":"The version of the reference genome, NCBI notation.",
"required":true,
"type":"string"
},
{
"name":"alt",
"name":"alternateBases",
"in":"query",
"description":"The bases that appear instead of the reference bases. The semantics correspond to the field ALT in VCF. Options are base Strings made up of A,C,G,T,N,* (case insensitive) or an angle-bracketed ID or a breakend replacement string.",
"description":"The bases that appear instead of the reference bases. Accepted values: see the ALT field in VCF 4.2 specification.",
"required":true,
"type":"string"
},
{
"name":"ref",
"name":"referenceBases",
"in":"query",
"description":"The reference bases for this variant, starting from `position`, in the genome described by the field `reference`. The semantics correspond to the field REF in VCF. One of A,C,G,T,N (case insensitive). Multiple bases are permitted.",
"description":"Reference bases for this variant (starting from `start`). Accepted values: see the REF field in VCF 4.2 specification.",
"required":true,
"type":"string"
},
{
"name":"datasetIds",
"in":"query",
"description":"Limit to a set of datasetIds at the target website. An ID is specific to the website that is queried and can be an accession ID, population or any other identifier",
"description":"Limit to a set of datasetIds at the target website. An ID is specific to the website that is queried and can be an accession ID, population or any other identifier.",
"required":false,
"type":"array",
"items":{
...
...
@@ -116,11 +116,11 @@
"properties":{
"beaconId":{
"type":"string",
"description":"Beacon identfier"
"description":"Identifier of the beacon, as defined in `Beacon`."
},
"exists":{
"type":"boolean",
"description":"indicates whether the variant has been observed."
"description":"Indicates whether the variant has been observed. Might be removed in the future."
},
"alleleRequest":{
"type":"object",
...
...
@@ -131,40 +131,40 @@
},
"datasetAlleleResponses":{
"type":"array",
"description":"Datasets for which the variant is found.",
"description":"Indicator of whether the beacon has observed the allele.",
"description":"Beacon-specific error. This should be non-null in exceptional situations only."
}
}
},
"BeaconAlleleRequest":{
"type":"object",
"properties":{
"chrom":{
"referenceName":{
"type":"string",
"description":"Chromosome name. Accepted values are 1-22, X, Y and MT."
},
"pos":{
"start":{
"type":"number",
"description":"Coordinate within a chromosome (0-based)."
},
"assembly":{
"assemblyId":{
"type":"string",
"description":"The version of the reference genome, NCBI notation."
},
"alt":{
"alternateBases":{
"type":"string",
"description":"The bases that appear instead of the reference bases. The semantics correspond to the field ALT in VCF. Options are base Strings made up of A,C,G,T,N,* (case insensitive) or an angle-bracketed ID or a breakend replacement string."
},
"ref":{
"referenceBases":{
"type":"string",
"description":"The reference bases for this variant, starting from `position`, in the genome described by the field `reference`. The semantics correspond to the field REF in VCF. One of A,C,G,T,N (case insensitive). Multiple bases are permitted."
},
...
...
@@ -180,37 +180,37 @@
"BeaconError":{
"type":"object",
"properties":{
"status":{
"errorCode":{
"type":"number",
"description":"The error code."
},
"reason":{
"type":"string",
"description":"The reason of the error."
},
"message":{
"type":"string",
"description":"An error message."
}
}
},
"DatasetAlleleResponse":{
"BeaconDatasetAlleleResponse":{
"type":"object",
"properties":{
"datasetId":{
"type":"string",
"description":"Identifier of the dataset, as defined in `BeaconDataset`."
},
"exists":{
"type":"boolean",
"description":"Can be used to indicate that this variant has been observed before and no other information."
"description":"Indicator of whether the given allele was observed in the dataset. This should be non-null, unless there was an error."
},
"frequency":{
"type":"number",
"description":"Frequency of the allele in the dataset, 0.0-1.0, inclusive."
},
"errorInfo":{
"error":{
"type":"array",
"items":{
"$ref":"#/definitions/BeaconError"
},
"description":"Beacon error."
"description":"Dataset-specific error. This should be non-null in exceptional situations only, in which case `exists` has to be null."
},
"variantCount":{
"type":"number",
...
...
@@ -262,7 +262,7 @@
},
"welcomeUrl":{
"type":"string",
"description":"URL of homepage with additional info about the organizazion"
"description":"URL of homepage with additional info about the organization"
},
"contactUrl":{
"type":"string",
...
...
@@ -308,7 +308,7 @@
},
"welcomeUrl":{
"type":"string",
"description":"URL of homepage with additional info about the beacon."
"description":"URL of homepage with additional info about the Beacon."
},
"sampleAlleleRequests":{
"type":"array",
...
...
@@ -319,11 +319,11 @@
},
"name":{
"type":"string",
"description":"The beacon name."
"description":"The Beacon name."
},
"version":{
"type":"string",
"description":"The beacon version."
"description":"The Beacon version."
},
"alternativeUrl":{
"type":"string",
...
...
@@ -331,14 +331,14 @@
},
"created":{
"type":"number",
"description":"The beacon's creation date."
"description":"The Beacon creation date."
},
"updated":{
"type":"number",
"description":"The beacon's last update date."
"description":"The Beacon last update date."
},
"info":{
"description":"General information about the beacon.",
"description":"General information about the Beacon.",
"type":"array",
"items":{
"type":"string"
...
...
@@ -353,20 +353,21 @@
"type":"string",
"description":"Short unique identifier for the dataset."
},
"assembly":{
"assemblyId":{
"type":"string",
"description":"The version of the reference genome, NCBI notation."
"description":"Assembly identifier (GRC notation, e.g. `GRCh37`). Why not \"referenceName\"?"
},
"description":{
"type":"string",
"description":"The dataset's description."
"description":"The dataset description."
},
"dataUse":{
"$ref":"#/definitions/DataUse"
"consentCodeDataUse":{
"type":"string",
"description":"Should be org.ga4gh.consentcode.ConsentCodeDataUse and not string."
},
"name":{
"type":"string",
"description":"The dataset's name."
"description":"The dataset name."
},
"created":{
"type":"number",
...
...
@@ -374,7 +375,7 @@
},
"updated":{
"type":"number",
"description":"The dataset's last update date."
"description":"The dataset last update date."
},
"version":{
"type":"string",
...
...
@@ -404,41 +405,6 @@
}
}
}
},
"DataUse":{
"type":"object",
"properties":{
"primaryCategory":{
"$ref":"#/definitions/DataUseCondition"
},
"requirements":{
"description":"List of data use requirements.",
"type":"array",
"items":{
"$ref":"#/definitions/DataUseCondition"
}
},
"secondaryCategories":{
"description":"List of secondary data use conditions.",
description:This document represents a proposal for the next version of the API for the GA4GH Beacon Project. The new API is intended to expose new functionalities motivated by potential uses cases contributed by the community.