Cortexa research tool·genomics·ensembl

Ensembl Vep Region

Variant Effect Predictor (VEP) for genomic variants. Predicts functional consequences of variants including impact on genes, transcripts, and proteins. Returns SIFT/PolyPhen scores, consequence types, and affected transcripts. Essential for variant interpretation.

Livelast probed 2026-05-01 01:00Z· 568msCortexa

Status

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

Last probed: 1d ago
Last success: 1d ago
Last latency: 568ms

Schema

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

{
  "properties": {
    "AncestralAllele": {
      "default": 0,
      "description": "Include ancestral allele information",
      "type": "integer"
    },
    "Blosum62": {
      "default": 0,
      "description": "Include BLOSUM62 protein conservation score",
      "type": "integer"
    },
    "CADD": {
      "default": 0,
      "description": "Include CADD scores",
      "type": "integer"
    },
    "Conservation": {
      "default": 0,
      "description": "Include conservation scores",
      "type": "integer"
    },
    "DisGeNET": {
      "default": 0,
      "description": "Include DisGeNET disease associations",
      "type": "integer"
    },
    "GO": {
      "default": 0,
      "description": "Include Gene Ontology terms",
      "type": "integer"
    },
    "GeneSplicer": {
      "default": 0,
      "description": "Include GeneSplicer predictions",
      "type": "integer"
    },
    "LoF": {
      "default": 0,
      "description": "Include Loss-of-Function predictions",
      "type": "integer"
    },
    "MaxEntScan": {
      "default": 0,
      "description": "Include MaxEntScan splice predictions",
      "type": "integer"
    },
    "Phenotypes": {
      "default": 0,
      "description": "Include phenotype annotations",
      "type": "integer"
    },
    "PolyPhen": {
      "description": "PolyPhen prediction: p=prediction, s=score, b=both",
      "enum": [
        "p",
        "s",
        "b"
      ],
      "type": "string"
    },
    "SIFT": {
      "description": "SIFT prediction: p=prediction, s=score, b=both",
      "enum": [
        "p",
        "s",
        "b"
      ],
      "type": "string"
    },
    "allele": {
      "description": "Alternative allele (e.g., 'T', 'C')",
      "type": "string"
    },
    "region": {
      "description": "Genomic region with variant (e.g., '21:25891796-25891796')",
      "type": "string"
    },
    "species": {
      "description": "Species (e.g., 'human', 'homo_sapiens')",
      "type": "string"
    }
  },
  "required": [
    "species",
    "region",
    "allele"
  ],
  "type": "object"
}

Examples (1)

Default Ensembl Vep Region call

public-safeinput

{
  "AncestralAllele": 1,
  "Blosum62": 1,
  "CADD": 1,
  "Conservation": 1,
  "DisGeNET": 1,
  "GO": 1,
  "GeneSplicer": 1,
  "LoF": 1,
  "MaxEntScan": 1,
  "Phenotypes": 1,
  "allele": "",
  "region": "",
  "species": ""
}

Expected response keys: success

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

Identifiers

Catalog ID: tu_ensembl_vep_region
Tool name: ensembl_vep_region
Added: 2026-05-01 00:58Z
Tags: tooluniverse

Ensembl Vep Region

Livelast probed 2026-05-01 01:00Z· 568msCortexa

Schema

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

{ "properties": { "AncestralAllele": { "default": 0, "description": "Include ancestral allele information", "type": "integer" }, "Blosum62": { "default": 0, "description": "Include BLOSUM62 protein conservation score", "type": "integer" }, "CADD": { "default": 0, "description": "Include CADD scores", "type": "integer" }, "Conservation": { "default": 0, "description": "Include conservation scores", "type": "integer" }, "DisGeNET": { "default": 0, "description": "Include DisGeNET disease associations", "type": "integer" }, "GO": { "default": 0, "description": "Include Gene Ontology terms", "type": "integer" }, "GeneSplicer": { "default": 0, "description": "Include GeneSplicer predictions", "type": "integer" }, "LoF": { "default": 0, "description": "Include Loss-of-Function predictions", "type": "integer" }, "MaxEntScan": { "default": 0, "description": "Include MaxEntScan splice predictions", "type": "integer" }, "Phenotypes": { "default": 0, "description": "Include phenotype annotations", "type": "integer" }, "PolyPhen": { "description": "PolyPhen prediction: p=prediction, s=score, b=both", "enum": [ "p", "s", "b" ], "type": "string" }, "SIFT": { "description": "SIFT prediction: p=prediction, s=score, b=both", "enum": [ "p", "s", "b" ], "type": "string" }, "allele": { "description": "Alternative allele (e.g., 'T', 'C')", "type": "string" }, "region": { "description": "Genomic region with variant (e.g., '21:25891796-25891796')", "type": "string" }, "species": { "description": "Species (e.g., 'human', 'homo_sapiens')", "type": "string" } }, "required": [ "species", "region", "allele" ], "type": "object" }

Examples (1)

Default Ensembl Vep Region call

public-safeinput

{
  "AncestralAllele": 1,
  "Blosum62": 1,
  "CADD": 1,
  "Conservation": 1,
  "DisGeNET": 1,
  "GO": 1,
  "GeneSplicer": 1,
  "LoF": 1,
  "MaxEntScan": 1,
  "Phenotypes": 1,
  "allele": "",
  "region": "",
  "species": ""
}

Expected response keys: success

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