Resolve an rsID
to location and alleles.
dbSNP is the catalogue of known genetic variants — every rsID's chromosomal location, the genes it hits, its alleles, and its HGVS notations. dbsnp_variant resolves one, pinned to assembly, and reports any clinical significance verbatim — the entry point to the whole variant triangle.
What the instrument does
dbSNP (NCBI) is the reference archive of short genetic variation — SNPs and small indels — each with a stable rsID, mapped location, alleles, functional class and any aggregated clinical significance.
On the console, dbsnp_variant takes an rsID (with or without the 'rs' prefix) and returns its position on a named assembly, its genes, alleles and the HGVS strings that other instruments consume.
Tools this powers on the console
dbsnp_variant
Research use only. Service names belong to their owners; no partnership or endorsement is implied.
How Perslis integrates dbSNP
dbSNP is the front door of the variant bench. An rsID resolved here — rs6025, Factor V Leiden, in the F5 gene at 1:169,549,811 — carries the assembly and the HGVS notations, which hand straight to VEP for predicted effect and to ClinVar for clinical classification. One identifier, three instruments.
Where dbSNP aggregates clinical significance, it is reported verbatim — the same never-re-graded rule ClinVar follows — and stamped research use only. A variant on the console always knows which genome build its coordinates belong to.
Ask
One question at the console — no per-service query language, no tab-hopping.
Route
Lois calls this instrument alongside the others and gathers what returns.
Pin
Every field keeps its source: database, accession, URL. A result that cannot name its source is refused by construction.
Admit
The PEEL gate decides what enters the lab record. Reported values stay verbatim; unsupported claims stay out.
A real, source-pinned result
Pulled live from the service and pinned to its identifier — the same contract every answer on the console is held to.
| Location | 1:169,549,811 (GRCh38) |
|---|---|
| Gene | F5 |
| Alleles | C / A / G / T |
| Function class | missense_variant |
| HGVS (protein) | NP_000121.2:p.Arg534Gln |
| Clinical significance | pathogenic, risk-factor, … (verbatim) |
Source: dbsnp · rs6025 · retrieved 2026-09-18 · research use only
Why route dbSNP through one console
The variant front door
One rsID resolves to coordinates and HGVS that VEP and ClinVar consume directly.
Callable, assembly-stamped
An agent resolves a variant to a position that always names its genome build — no ambiguous coordinates.
Significance verbatim
Aggregated clinical significance is reported as-is, research use only — never re-graded by a model.
Instruments dbSNP talks to
A known variant opens onto its effect and its clinical read. dbSNP answers beside VEP and ClinVar.
ClinVar
Variant classifications and review status, reported verbatim — never re-graded.
clinvar_search · clinvar_variantEnsembl VEP
Predicted variant consequences from rsID or HGVS. Research use only.
vep_consequences
Ensembl
Genes, coordinates, transcripts, FASTA sequence, cross-references.
ensembl_gene · ensembl_sequence · ensembl_xrefs