If you are working with genetic variants, you have likely encountered a common challenge: annotating and interpreting variants. Whether it’s a variant in a VCF file, a JSON file, a Pandas dataframe, or a plain text string, the task can be complex. Manually checking variants in GnomAD for frequencies or examining ClinVar for existing interpretations can be time-consuming. Annotating with RefSeq or Ensembl adds another layer of complexity with tools like VEP, AnnoVar, and SnpEff, requiring substantial time and data downloads. And yet, after three months, the databases may become outdated, complicating future analyses.
Wouldn’t it be more convenient to have a single REST API for annotating multiple variants at once, providing evergreen annotations usable with VCF, Pandas, or a simple curl query? Meet GeneBe.net