THIS IS NOT THE OFFICIAL GA4GH VRS DOCUMENTATION! This is a demonstration build for discussing advancements to the maturity model and versioning system for GKS specification development. Please refer to https://vrs.ga4gh.org for the GA4GH VRS standard.

GA4GH Variation Representation Specification

The Variation Representation Specification (VRS, pronounced “verse”) is a standard developed by the Global Alliance for Genomic Health to facilitate and improve sharing of genetic information. The Specification consists of a JSON Schema for representing many classes of genetic variation, conventions to maximize the utility of the schema, and a Python implementation that promotes adoption of the standard.

New in 2.0, additional intro text!


The GA4GH Variation Representation Specification (VRS): a computational framework for variation representation and federated identification. Wagner AH, Babb L, Alterovitz G, Baudis M, Brush M, Cameron DL, …, Hart RK. Cell Genomics. Volume 1 (2021). doi:10.1016/j.xgen.2021.100027