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SPDI Variation Service

HealthData.Gov

Updated Oct 29, 2026

About this dataset

This genetic variation services interconvert and transform short genetic variants between HGVS expressions, VCF format, and the new SPDI (Sequence Position Deletion Insertion) format, based on alignment datasets used by ClinVar and dbSNP. NOTE: This service is still in beta testing mode

Data and resources (1)

  • HTML

    API

    dbSNP provides bulk download in VCF and JSON at https://ftp.ncbi.nih.gov/snp/latest_release/ for users with a large number of RefSNPs (>100K) to process. NOTE: This service is still in beta testing mode. Please limit your request rate to 1 request/second.

    Modified Apr 29, 2026

Prototype by Datopian · not an official government website · data from data.virginia.gov