SPDI Variation Service

Description

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

Resources

Name Format Description Link
21 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. https://api.ncbi.nlm.nih.gov/variation/v0/

Tags

  • tools-utilities
  • molecular-biology
  • genomics
  • data-specifications
  • api
  • genetics

Topics

Categories