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Retrieve Variant Predictions for a Variant Identifier

get

/ohfapi/cg/v3.3/variants/{id}/variantPredictions

This endpoint supports the retrieval of Variant Predictions for Variant Identifier. It returns Variant Prediction information like HUGO Name, Transcript Identifier, Assembly/Alignment, Ensembl Version, Prediction Type, Prediction Code, Prediction Version and other Variant Prediction associated information.

Request

Supported Media Types

• application/json
• application/xml

Path Parameters

• id: integer(int64)
  Variant 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 : VariantPrediction

Type: object

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• gene(optional): array gene
  List of Gene Predictions
• identifier(optional): object Identifier
  Identifier assigned by a given system
• resourceType(optional): string
• variantReferences(optional): object LinkedReference

{
    "type":"object",
    "properties":{
        "resourceType":{
            "type":"string"
        },
        "identifier":{
            "description":"Variant Row ID",
            "$ref":"#/definitions/Identifier"
        },
        "gene":{
            "type":"array",
            "description":"List of Gene Predictions",
            "items":{
                "$ref":"#/definitions/GenePrediction"
            }
        },
        "variantReferences":{
            "example":"{href: '/variants/{variantRecordId}'}",
            "description":"A link containing href to retrieve Variant Annotation details",
            "$ref":"#/definitions/LinkedReference"
        }
    }
}

Nested Schema : gene

Type: array

List of Gene Predictions

Show Source

• Array of: object GenePrediction

{
    "type":"array",
    "description":"List of Gene Predictions",
    "items":{
        "$ref":"#/definitions/GenePrediction"
    }
}

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"
}

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 : GenePrediction

Type: object

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• hugoName(optional): string
  Approved HUGO symbol for species loci, including protein coding genes, RNA genes and pseudogenes, e.g. 'SRY', 'DMRT1', 'FOXL2', etc.
• variantPredictions(optional): array variantPredictions
  List of Predictions

{
    "type":"object",
    "properties":{
        "hugoName":{
            "type":"string",
            "description":"Approved HUGO symbol for species loci, including protein coding genes, RNA genes and pseudogenes, e.g. 'SRY', 'DMRT1', 'FOXL2', etc. "
        },
        "variantPredictions":{
            "type":"array",
            "description":"List of Predictions",
            "items":{
                "$ref":"#/definitions/Prediction"
            }
        }
    }
}

Nested Schema : variantPredictions

Type: array

List of Predictions

Show Source

• Array of: object Prediction

{
    "type":"array",
    "description":"List of Predictions",
    "items":{
        "$ref":"#/definitions/Prediction"
    }
}

Nested Schema : Prediction

Type: object

Show Source

• assembly(optional): string
  Assembly/Alignment Name. For ex.,GRCh38
• ensemblVersion(optional): string
  Ensembl Version. For ex.,GRCH37.75
• predictionCode(optional): string
  Prediction Code. For ex.,deleterious
• predictionScore(optional): number
  Prediction Score .For ex.,1
• predictionType(optional): string
  Prediction Type. for ex.,SIFT
• predictionVersion(optional): string
  Prediction Version Label. For ex.,SIFT_VER2_75
• transcriptId(optional): string
  Transcript ID. For.,ENST00000441069
• variant(optional): object LinkedReference

{
    "type":"object",
    "properties":{
        "transcriptId":{
            "type":"string",
            "description":"Transcript ID. For.,ENST00000441069"
        },
        "assembly":{
            "type":"string",
            "description":"Assembly/Alignment Name. For ex.,GRCh38"
        },
        "ensemblVersion":{
            "type":"string",
            "description":"Ensembl Version. For ex.,GRCH37.75"
        },
        "predictionType":{
            "type":"string",
            "description":"Prediction Type. for ex.,SIFT"
        },
        "predictionCode":{
            "type":"string",
            "description":"Prediction Code. For ex.,deleterious"
        },
        "predictionScore":{
            "type":"number",
            "description":"Prediction Score .For ex.,1"
        },
        "predictionVersion":{
            "type":"string",
            "description":"Prediction Version Label. For ex.,SIFT_VER2_75"
        },
        "variant":{
            "example":"{href: '/variants/{variantRecordId}'}",
            "description":"A link containing href to retrieve Variant Annotation details",
            "$ref":"#/definitions/LinkedReference"
        }
    }
}

400 Response

Invalid parameters supplied

404 Response

Variant prediciton(s) not found

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Examples

The following example submits a GET request.

API URL

http://localhost:7010/ohfapi/cg/v3.3/variants/536777/variantPredictions

Example of Response Body

The following example shows the response returned in JSON format.

{
  "resourceType": "VariantPredictions",
  "identifier": {
    "system": "ODB",
    "value": "536777"
  },
  "gene": [
    {
      "hugoName": "ASAP3",
      "variantPrediction": [
        {
          "transcriptID": "ENST00000437606",
          "assembly": "GRCh37",
          "ensemblVersion": "GRCH37.75",
          "predictionType": "SIFT",
          "predictionCode": "deleterious",
          "predictionScore": 0,
          "predictionVersion": "SIFT_VER2_75"
        },
        {
          "transcriptID": "ENST00000492982",
          "assembly": "GRCh37",
          "ensemblVersion": "GRCH37.75",
          "predictionType": "SIFT",
          "predictionCode": "deleterious",
          "predictionScore": 0,
          "predictionVersion": "SIFT_VER2_75"
        }
      ]
    }
  ],
  "variant": {
    "reference": "/ohfapi/cg/v3.3/variants/536777"
 }

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