biothings_get_variant
Retrieve detailed annotation data for a single variant using its HGVS or rsID identifier. Ideal when you already know the variant ID and need precise data without complex search filters.
Instructions
Fetch a specific variant by HGVS or rsID.
Retrieves detailed annotation data for a **single, specific variant** using its identifier.
**This is the preferred tool over `query_variants` for fetching a specific variant when you already know
its standard ID (HGVS or rsID) and don't need complex search filters.**
**Supported Identifiers:**
- HGVS ID (e.g., `chr7:g.140453134T>C`). *Note: MyVariant.info primarily uses hg19-based HGVS IDs.*
- dbSNP rsID (e.g., `rs58991260`)
Input Schema
TableJSON Schema
| Name | Required | Description | Default |
|---|---|---|---|
| No | |||
| fields | No | all | |
| variant_id | Yes |
Output Schema
TableJSON Schema
| Name | Required | Description | Default |
|---|---|---|---|
| id | No | Variant identifier | |
| vcf | No | VCF information | |
| cadd | No | CADD scores and predictions | |
| docm | No | DoCM annotations | |
| hg19 | No | HG19 genomic location | |
| chrom | No | Chromosome number | |
| dbsnp | No | dbSNP annotations | |
| mutdb | No | MutDB annotations | |
| cosmic | No | COSMIC annotations | |
| dbnsfp | No | dbNSFP functional predictions | |
| snpeff | No | SnpEff annotations | |
| clinvar | No | ClinVar annotations | |
| version | No | Version number |