ensembl_consequence
Predict the functional consequence of a variant via Ensembl VEP, including novel or non-human variants. Input HGVS notation or rsID to get transcript effects, impact, and co-located known variants.
Instructions
Predict the functional consequence of a variant on demand via Ensembl VEP — works even for NOVEL variants absent from every database, and for non-human species.
Input forms: HGVS c./p./g. notation ("NM_004333:c.1799T>A", "NM_004333.6:c.1799T>A") or a dbSNP rsID ("rs113488060"). Prefer HGVS over rsIDs when both are available — rsIDs are resolved through dbSNP's coordinate mapping, which can yield less specific consequences. RefSeq accessions may carry a version ("NM_004333.6:c.1799T>A"); when the version is not carried by the current Ensembl release the call is retried against the bare accession and the result flags the reinterpretation in warnings. Per-species rules: the variant must be valid on a transcript of THAT species — RefSeq NM_ accessions work cross-species only when the transcript belongs to it (e.g. "NM_011640:c.100A>G" + species 'mouse' is mouse Trp53; a human NM_ fed to species 'mouse' fails). Ensembl transcript IDs (ENST…, ENSMUST…) are accepted for their own species, and c./p. positions must be in range for the transcript. Invalid input returns the upstream VEP error explaining what could not be mapped. Returns the most severe consequence plus per-transcript effects (impact, codon/amino-acid change, SIFT/PolyPhen where available) and co-located known variants (ClinVar/COSMIC IDs, gnomAD/1000G frequencies when present). For KNOWN human variants, variant_get additionally provides deep pre-computed scores (CADD, REVEL, AlphaMissense, ClinVar stars) — prefer it there.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| limit | No | Max transcript consequences returned (sorted by impact severity) | |
| species | No | Species — 'human' (default), 'mouse', … | human |
| variant | Yes | HGVS notation (NM_004333:c.1799T>A) or dbSNP rsID (rs113488060) |