REEV (REEV: Explanation and Evaluation of Variants) is a web-based tool for clinicians and researchers in rare disease genetics. See below for a list of features. A good place to start learning about REEV is the quickstart or tutorial.


It provides the following features as a central resource:

  • gene-related information and functionality:
    • basic information, including gene summaries

    • gene pathogenicity information, such as pLI and LOEUF constraints, DECIPHER Haploinsufficiency, …

    • condition/disease-related information

    • aggregated variant information from ClinVar

    • gene-phenotype similarity information and ranking

  • sequence variant-related functionality:
    • consequences on transcripts and proteins sequences

    • ClinVar variant information

    • gnomAD population frequency

    • UCSC 100 vertebrate conservation

    • semi-automated ACMG classification from InterVar[1]

    • link-out to external resources and tools

    • query the GA4GH beacon network for the variant

    • query the VariantValidator API for the variant

  • structural variant (currently copy number loss/gain only)-related functionality:
    • consequences on overlapping genes

    • information on overlapping structural variants in ClinVar

    • semi-automated ACMG classification from AutoCNV[2]

    • link-out to external resources and tools

    • integrated genome browser with useful tracks for interpreting the variant

Open Source and Data#

REEV is open source software using open data. See section Operator Introduction for more information.