Folklore

Folklore by Helena Bioinformatics is a free public web tool for automated ACMG/AMP classification of individual human germline variants on GRCh38. Enter a supported HGVS expression, SPDI, rsID or genomic coordinate for a nuclear SNV or simple insertion or deletion smaller than 50 bp. When the variant resolves uniquely and interpretation succeeds, Folklore shows the normalized variant, the automated classification and reported criteria, and available evidence such as ClinVar assertions and population allele frequencies, with source versions. ClinVar assertions are displayed separately from the automated classification. No account is required for public single-variant queries. Clinical use of a result requires review by a qualified genetics professional.

The public service is available at https://folklore.helena.bio/. Its browser interface lets a visitor start with one variant identifier and inspect the returned interpretation and supporting annotations. This makes the service relevant to researchers, genetics professionals and learners looking for an accessible way to explore ACMG/AMP variant classification and the evidence reported for a supported variant. The public workflow concerns a single variant on the GRCh38 reference assembly.

The distinction between automated classification and existing database assertions matters when reading a result. Folklore presents ClinVar assertions separately, so visitors can examine those records alongside the automated interpretation rather than treating them as the same conclusion. Available source versions and supporting evidence help readers understand the information behind a result. Evidence availability and successful interpretation depend on the submitted variant; a uniquely resolved input and a successful query are necessary before an interpretation can be shown.

Visitors can read the public guide at https://folklore.helena.bio/acmg-variant-classification and a worked example at https://folklore.helena.bio/examples/acmg-variant-classification before submitting their own supported query. These pages explain the public single-variant workflow and provide a concrete example of the information to review. The public browser service is free to access without registration. Its automated output should be reviewed in the relevant clinical and scientific context by a qualified genetics professional before clinical use.