VRSified Variants

Variant Response in GA4GH Variant Representation Standard (VRS) Format

The variant format served through the API has now changed to a format commpatible with the GA4GH Variant Representation Standard (VRS version (bleeding edge version...).

VRSified CNVLegacy CNVVRSified SNVLegacy SNV

{
    "caseLevelData": [
        {
            "analysisId": "pgxcs-kftwfurn",
            "biosampleId": "pgxbs-kftvj7rz",
            "id": "pgxvar-5c86664409d374f2dc4eeb93"
        }
    ],
    "variation": {
        "location": {
            "interval": {
                "end": {
                    "type": "Number",
                    "value": 62947165
                },
                "start": {
                    "type": "Number",
                    "value": 23029501
                }
            },
            "sequenceId": "refseq:NC_000018.10",
            "type": "SequenceLocation"
        },
        "relativeCopyClass": "partial loss",
        "updated": "2022-03-29T15:06:46.526020",
        "variantInternalId": "18:23029501-62947165:DEL"
    }
}

{
    "caseLevelData": [
        {
            "analysisId": "pgxcs-kftwfurn",
            "biosampleId": "pgxbs-kftvj7rz",
            "id": "pgxvar-5c86664409d374f2dc4eeb93"
        }
    ],
    "variantInternalId": "18:23029501-62947165:DEL"
    "referenceName": "18",
    "start": 23029501,
    "end": 62947165,
    "variantType": "DEL",
    "updated": "2022-03-29T15:06:46.526020"
}

{
    "caseLevelData": [
        {
            "analysisId": "pgxcs-kl8hg4ky",
            "biosampleId": "pgxbs-kl8hg4ku",
            "id": "pgxvar-5be1840772798347f0eda0d8"
        }
    ],
    "variation": {
        "location": {
            "interval": {
                "end": {
                    "type": "Number",
                    "value": 7577121
                },
                "start": {
                    "type": "Number",
                    "value": 7577120
                },
                "type": "SequenceInterval"
            },
            "sequenceId": "refseq:NC_000017.11",
            "type": "SequenceLocation"
        },
        "state": {
            "sequence": "G",
            "type": "LiteralSequenceExpression"
        },
        "updated": "2022-03-29T15:35:35.700954",
        "variantInternalId": "17:7577121:C>G"
    }
}

{
    "caseLevelData": [
        {
            "analysisId": "pgxcs-kl8hg4ky",
            "biosampleId": "pgxbs-kl8hg4ku",
            "id": "pgxvar-5be1840772798347f0eda0d8"
        }
    ],
    "variantInternalId": "17:7577121:C>G",
    "start": 7577120,
    "end": 7577121,
    "referenceName": "17",
    "referenceBases": "C",
    "alternateBases": "G",
    "updated": "2022-03-29T15:35:35.700954"
}