HBBgen

HBBgen is a data model and software toolkit designed to standardize the representation and analysis of information related to the human beta-globin gene, HBB. It provides a structured framework for organizing gene structure, genetic variants, haplotypes, transcript annotations, and regulatory features in a consistent format across research projects.

The core of HBBgen is a flexible schema that links the HBB locus to reference genome coordinates, transcript models, and variant effects. It supports common genomics data formats for import and export, such as VCF for variants, GFF3 for annotations, and FASTA for sequences, and includes libraries for parsing, validation, and conversion. An integrated variant-annotation layer connects observed mutations to public databases and literature, while a haplotype module facilitates reconstruction of allelic combinations from sequence data.

In practice, HBBgen is used to harmonize data from sequencing studies, clinical variant collections, and population-genetics projects. It enables researchers to compare patient mutations, annotate clinically relevant alleles such as HbS and beta-thalassemia variants, and run simulations of haplotype evolution under different selection pressures.

Development and licensing: The project is maintained by a community of contributors and released under an open-source license. It is typically distributed via a public repository with accompanying documentation, tutorials, and example datasets to help new users adopt the standard.

Limitations and scope: HBBgen focuses specifically on the human beta-globin gene and related annotations. It is not a general-purpose genomic database, and users should align data to current reference assemblies and domain-specific conventions when integrating with other resources.