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Retrieve Gene for a Gene Identifier

get

/ohfapi/cg/v3.3/genes/{id}

This endpoint supports the retrieval of Gene for a single Gene Row ID passed. It returns Gene information like Gene Name, HUGO Name, Assembly/Alignment, Chromosome and other Gene related information.

Request

Supported Media Types

• application/json
• application/xml

Path Parameters

• id: integer(int64)
  Minimum Value: 0

  Gene row ID

Security

• basicAuth: basic
  Type: basic

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Response

Supported Media Types

• application/json
• application/xml

200 Response

successful operation

Body ()

Root Schema : Gene

Type: object

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• assembly(optional): string
  Assembly/Alignment Name. For ex.,GRCh38
• cancerGenes(optional): object LinkedReference
• chromosome(optional): string
  Chromosome Name. For ex.,'Y'
• chromosomeReference(optional): object LinkedReference
• description(optional): string
  Gene Description
• diseaseGenes(optional): object LinkedReference
• drugGenes(optional): object LinkedReference
• geneName(optional): string
  Gene Name. For ex.,RN5S300
• geneReference(optional): object LinkedReference
• geneXref(optional): object LinkedReference
• genomicPositions(optional): object LinkedReference
• hugoName(optional): string
  Approved HUGO symbol for species loci, including protein coding genes, RNA genes and pseudogenes, e.g. 'SRY', 'DMRT1', 'FOXL2', etc.
• identifier(optional): object Identifier
  Identifier assigned by a given system
• pathways(optional): object LinkedReference
• resourceType(optional): string
• transcripts(optional): object LinkedReference

{
    "type":"object",
    "properties":{
        "resourceType":{
            "type":"string"
        },
        "identifier":{
            "description":"Gene Identifier",
            "$ref":"#/definitions/Identifier"
        },
        "geneName":{
            "type":"string",
            "description":"Gene Name. For ex.,RN5S300"
        },
        "hugoName":{
            "type":"string",
            "description":"Approved HUGO symbol for species loci, including protein coding genes, RNA genes and pseudogenes, e.g. 'SRY', 'DMRT1', 'FOXL2', etc. "
        },
        "assembly":{
            "type":"string",
            "description":"Assembly/Alignment Name. For ex.,GRCh38"
        },
        "chromosomeReference":{
            "$ref":"#/definitions/LinkedReference"
        },
        "chromosome":{
            "type":"string",
            "description":"Chromosome Name. For ex.,'Y'"
        },
        "geneReference":{
            "example":"{href: '/genes/{geneId}'}",
            "description":"A link containing href to retrieve Gene details",
            "$ref":"#/definitions/LinkedReference"
        },
        "description":{
            "type":"string",
            "description":"Gene Description"
        },
        "genomicPositions":{
            "example":"{href: '/genes/{geneId}/genomicPositions'}",
            "description":"A link containing href to retrieve Gene Genomic Position details",
            "$ref":"#/definitions/LinkedReference"
        },
        "transcripts":{
            "example":"{href: '/genes/{geneId}/transcripts'}",
            "description":"A link containing href to retrieve Gene Transcipt details",
            "$ref":"#/definitions/LinkedReference"
        },
        "pathways":{
            "example":"{href: '/genes/{geneId}/pathways'}",
            "description":"A link containing href to retrieve Gene Pathway details",
            "$ref":"#/definitions/LinkedReference"
        },
        "diseaseGenes":{
            "example":"{href: '/genes/{geneId}/diseases'}",
            "description":"A link containing href to retrieve Gene Disease details",
            "$ref":"#/definitions/LinkedReference"
        },
        "drugGenes":{
            "example":"{href: '/genes/{geneId}/drugs'}",
            "description":"A link containing href to retrieve Gene Drug details",
            "$ref":"#/definitions/LinkedReference"
        },
        "cancerGenes":{
            "example":"{href: '/genes/{geneId}/cancer'}",
            "description":"A link containing href to retrieve Gene Cancer details",
            "$ref":"#/definitions/LinkedReference"
        },
        "geneXref":{
            "example":"{href: '/genes/{geneId}/geneXref'}",
            "description":"A link containing href to retrieve Gene Xref details",
            "$ref":"#/definitions/LinkedReference"
        }
    }
}

Nested Schema : LinkedReference

Type: object

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• display(optional): string
• reference(optional): string

{
    "type":"object",
    "properties":{
        "reference":{
            "type":"string"
        },
        "display":{
            "type":"string"
        }
    }
}

Nested Schema : Identifier

Type: object

Identifier assigned by a given system

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• system(optional): string
  System which assigned this identifier
• value(optional): string
  Identifier value

{
    "type":"object",
    "properties":{
        "system":{
            "type":"string",
            "description":"System which assigned this identifier"
        },
        "value":{
            "type":"string",
            "description":"Identifier value"
        }
    },
    "description":"Identifier assigned by a given system"
}

400 Response

Invalid parameters supplied

404 Response

Genes not found

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Examples

The following example submits a GET request.

API URL

http://localhost:7010/ohfapi/cg/v3.3/genes/50259

Example of Response Body

The following example shows the contents of the response body in JSON format:

{
  "resourceType": "GeneDetails",
  "identifier": {
    "system": "ODB",
    "value": "50259"
  },
  "geneName": "ENSG00000146648",
  "hugoName": "EGFR",
  "assembly": "GRCh37",
  "description": "epidermal growth factor receptor [Source:HGNCSymbol;Acc:3236]",
  "genomicPositions": {
    "reference": "/ohfapi/cg/v3.3/genes/50259/genomicPositions"
  },
  "transcripts": {
    "reference": "/ohfapi/cg/v3.3/genes/50259/transcripts"
  },
  "pathways": {
    "reference": "/ohfapi/cg/v3.3/genes/50259/pathways"
  },
  "diseaseGenes": {
    "reference": "/ohfapi/cg/v3.3/genes/50259/diseases"
  },
  "drugGenes": {
    "reference": "/ohfapi/cg/v3.3/genes/50259/drugs"
  },
  "cancerGenes": {
    "reference": "/ohfapi/cg/v3.3/genes/50259/cancer"
  },
  "geneXref": {
    "reference": "/ohfapi/cg/v3.3/genes/50259/geneXref"
  }
}

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