annotate_variant
Read-onlyIdempotent
Annotate and classify one human genetic variant using GeneBe.
Start here for any question about a variant (what is it, is it pathogenic/benign, how common is it). Returns the ACMG verdict with points and criteria, population frequency (gnomAD), predictor scores (REVEL, AlphaMissense, SpliceAI, ...), ClinVar status, transcript consequences, and links to the GeneBe page to cite. Research use only; not a diagnosis.
Input Schema
TableJSON Schema
| Name | Required | Description | Default |
|---|---|---|---|
| genome | No | Genome build of coordinate input. Ignored for HGVS/rsID. | hg38 |
| variant | Yes | The variant. Accepts 'chr-pos-ref-alt' (6-160585140-T-G), HGVS with transcript (NM_005577.4:c.4195A>C), rsID (rs41272110), SPDI, or 'GENE p.Thr1399Pro'. | |
| transcript | No | Force this transcript for the classification, e.g. NM_000546.6 | |
| gene_symbol | No | Force this gene for the classification, e.g. TP53 |
Output Schema
TableJSON Schema
| Name | Required | Description | Default |
|---|---|---|---|
| gene | Yes | ||
| dbsnp | Yes | ||
| links | Yes | ||
| scores | Yes | ||
| clinvar | Yes | ||
| summary | No | Human-readable variant summary from GeneBe, when the backend provides one | |
| variant | Yes | ||
| verdict | Yes | ||
| warning | No | ||
| frequency | Yes | ||
| truncated | No | ||
| disclaimer | No | For research use only. Not a diagnosis; results must be reviewed by a qualified specialist before any clinical use. | |
| consequences | Yes | ||
| conservation | Yes | ||
| total_consequences | Yes |