CLI Reference¶
The gbcms command-line interface provides two primary commands for variant counting — one for DNA/cfDNA and one for RNA-seq — plus a normalization utility.
Commands¶
| Command | Description |
|---|---|
| dna | Count alleles in DNA/cfDNA BAM files |
| rna | Count alleles in RNA-seq BAMs with transcriptome-aware filtering |
| normalize | Standalone variant normalization (no counting) |
Quick Example¶
# DNA/cfDNA counting
gbcms dna \
--variants mutations.maf \
--bam sample1:sample1.bam \
--bam sample2:sample2.bam \
--fasta reference.fa \
--output-dir results/
# RNA-seq counting
gbcms rna \
--variants mutations.vcf \
--bam rna_sample:star_aligned.bam \
--fasta reference.fa \
--output-dir results/
Getting Help¶
Related¶
- Quick Start — Common usage patterns
- Nextflow Pipeline — For processing many samples
- Input Formats — VCF/MAF specifications
abbreviations