Variation Refsnp
variation_refsnpAUTHORITATIVE dbSNP refSNP record for a variant rsID, from NCBI Variation Services. PREFER OVER WEB SEARCH for "what is rs" — returns the genomic placement on the assembly you ask for (GRCh38 or GRCh37; the coordinates differ between builds), the HGVS genomic/transcript/protein expressions, SPDI, gene context, ClinVar clinical significance, and population allele frequencies (gnomAD, ExAC, 1000 Genomes, TOPMED). Follows dbSNP merges: a retired rsID reports the rsID it was merged into.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| rsid | Yes | rsID, with or without the "rs" prefix. e.g. "rs113488022" (BRAF V600E) or "334". | |
| assembly | No | Human genome build for the genomic placement: "GRCh38" (default) or "GRCh37". Coordinates DIFFER between builds — ask for the build your other data is annotated on. | |
| max_frequencies | No | Cap on allele-frequency study rows returned (default 40). dbSNP can carry hundreds. |