Cortexa research tool·genomics·ensembl_vep

EnsemblVEP Annotate Hgvs

Predict functional consequences of a genetic variant using HGVS notation via the Ensembl Variant Effect Predictor (VEP). Returns impact on genes, transcripts, and proteins including SIFT/PolyPhen pathogenicity scores, consequence types, amino acid changes, and colocated known variants. HGVS notation examples: 'BRAF:p.Val600Glu' (protein), 'ENST00000366667:c.803C>T' (coding DNA). This complements the existing region-based VEP tool by accepting standard clinical variant nomenclature.

Livelast probed 2026-04-30 23:07Z· 112msCortexa

Status

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

Last probed: 1d ago
Last success: 1d ago
Last latency: 112ms

Schema

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

{
  "properties": {
    "hgvs_notation": {
      "description": "Variant in HGVS notation. Supports protein (p.), coding DNA (c.), and genomic (g.) notation. Examples: 'BRAF:p.Val600Glu', 'ENST00000366667:c.803C>T', 'NC_000007.14:g.140753336A>T'.",
      "type": "string"
    },
    "species": {
      "default": "human",
      "description": "Species name. Default: 'human'. Other options: 'mouse', 'rat', 'zebrafish', etc.",
      "type": "string"
    }
  },
  "required": [
    "hgvs_notation"
  ],
  "type": "object"
}

Examples (1)

Default EnsemblVEP Annotate Hgvs call

public-safeinput

{
  "hgvs_notation": ""
}

Expected response keys: success

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

Identifiers

Catalog ID: tu_EnsemblVEP_annotate_hgvs
Tool name: EnsemblVEP_annotate_hgvs
Added: 2026-04-30 22:47Z
Tags: tooluniverse

EnsemblVEP Annotate Hgvs

Livelast probed 2026-04-30 23:07Z· 112msCortexa

Schema

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

{ "properties": { "hgvs_notation": { "description": "Variant in HGVS notation. Supports protein (p.), coding DNA (c.), and genomic (g.) notation. Examples: 'BRAF:p.Val600Glu', 'ENST00000366667:c.803C>T', 'NC_000007.14:g.140753336A>T'.", "type": "string" }, "species": { "default": "human", "description": "Species name. Default: 'human'. Other options: 'mouse', 'rat', 'zebrafish', etc.", "type": "string" } }, "required": [ "hgvs_notation" ], "type": "object" }