bio-clinical-databases-dbsnp-queries

What problem does it solve?

Query dbSNP for rsID lookups, variant annotations, and cross-references to other databases. Use when mapping between rsIDs and genomic coordinates or retrieving basic variant information.

Core Features & Use Cases

• rsID lookups: Retrieve annotations from dbSNP via myvariant.info or NCBI Entrez.
• Coordinate mapping: Find coordinates for a given rsID or map coordinates to an rsID.
• Cross-references: Retrieve ClinVar, ClinVar clinical significance, and gnomAD data for variant context.
• Use Case: Integrate variant information into pipelines to annotate rsIDs across studies.

Quick Start

Provide an rsID like rs121913527 to fetch coordinates and annotations and return a structured result.