← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 4-177433250-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=177433250&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 177433250,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000264595.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGA",
"gene_hgnc_id": 318,
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Gly302Arg",
"transcript": "NM_000027.4",
"protein_id": "NP_000018.2",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 346,
"cds_start": 904,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": "ENST00000264595.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGA",
"gene_hgnc_id": 318,
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Gly302Arg",
"transcript": "ENST00000264595.7",
"protein_id": "ENSP00000264595.2",
"transcript_support_level": 1,
"aa_start": 302,
"aa_end": null,
"aa_length": 346,
"cds_start": 904,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": "NM_000027.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGA",
"gene_hgnc_id": 318,
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Gly292Arg",
"transcript": "NM_001171988.2",
"protein_id": "NP_001165459.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 336,
"cds_start": 874,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGA",
"gene_hgnc_id": 318,
"hgvs_c": "n.890G>A",
"hgvs_p": null,
"transcript": "NR_033655.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGA",
"gene_hgnc_id": 318,
"hgvs_c": "c.*11G>A",
"hgvs_p": null,
"transcript": "ENST00000502310.5",
"protein_id": "ENSP00000423798.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": -4,
"cds_end": null,
"cds_length": 464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AGA",
"gene_hgnc_id": 318,
"dbsnp": "rs121964905",
"frequency_reference_population": 0.0000020523094,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205231,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.994072437286377,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.912,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8835,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.44,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.343,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 15,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1_Very_Strong,PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 15,
"benign_score": 0,
"pathogenic_score": 15,
"criteria": [
"PS1_Very_Strong",
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000264595.7",
"gene_symbol": "AGA",
"hgnc_id": 318,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Gly302Arg"
}
],
"clinvar_disease": "Aspartylglucosaminuria",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Aspartylglucosaminuria",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}