Cortexa research tool·genomics·ensembl_variation_ext

EnsemblVar Get Variant Consequences

Get detailed variant information including consequence type, clinical significance, synonyms, evidence attributes, and allele mappings from Ensembl. More comprehensive than VEP - returns the full variant record with all known synonyms, mapped positions, ancestral allele, and minor allele data. Example: rs429358 returns most_severe_consequence='missense_variant', 27 synonyms, mapped to chr19:44908684 (GRCh38), and is classified as a missense_variant affecting APOE.

Livelast probed 2026-05-01 01:00Z· 88msCortexa

Status

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

Last probed: 1d ago
Last success: 1d ago
Last latency: 88ms

Schema

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

{
  "properties": {
    "species": {
      "description": "Species name. Default 'human'. Examples: 'human', 'homo_sapiens'.",
      "type": "string"
    },
    "variant_id": {
      "description": "dbSNP rsID of the variant. Examples: 'rs429358' (APOE), 'rs7903146' (TCF7L2), 'rs1042779'.",
      "type": "string"
    }
  },
  "required": [
    "variant_id"
  ],
  "type": "object"
}

Examples (1)

Default EnsemblVar Get Variant Consequences call

public-safeinput

{
  "variant_id": ""
}

Expected response keys: success

Anonymous-safe example. Rate-limited; no sign-in required.

Identifiers

Catalog ID: tu_EnsemblVar_get_variant_consequences
Tool name: EnsemblVar_get_variant_consequences
Added: 2026-05-01 00:58Z
Tags: tooluniverse

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