EBIProteins Get Variation

Overview

Get all known protein sequence variants for a UniProt protein from the EBI Proteins API. Returns variants from multiple sources including COSMIC (somatic mutations in cancer), ClinVar (clinical significance), gnomAD/ExAC (population frequencies), and UniProt (curated). Includes disease associations, clinical significance classifications, and cross-references. Essential for variant impact analysis and clinical interpretation. Example: P04637 (TP53) returns 3469 variants with cancer associations and clinical classifications.

Status

The most recent probe succeeded. Safe to call from the agent today.

Last probed

1d ago

Last success

1d ago

Last latency

99ms

Schema

JSON Schema the agent (or your API call) must match.

{
  "properties": {
    "accession": {
      "description": "UniProt accession. Examples: 'P04637' (TP53), 'P00533' (EGFR), 'P38398' (BRCA1).",
      "type": "string"
    },
    "disease_only": {
      "description": "If true, return only variants with disease associations. Default: false.",
      "type": "boolean"
    },
    "source_type": {
      "description": "Filter by variant source. Options: 'large_scale_study' (COSMIC, gnomAD), 'mixed' (multiple sources), 'uniprot' (curated). Null returns all.",
      "type": [
        "string",
        "null"
      ]
    }
  },
  "required": [
    "accession"
  ],
  "type": "object"
}

Examples (1)

{
  "accession": "P38398",
  "disease_only": false
}

Identifiers

Catalog ID

tu_EBIProteins_get_variation

Tool name

EBIProteins_get_variation

Added

2026-04-30 22:47Z

Tags

tooluniverse