← 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: 12-6936728-ACAGCAGCAG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6936728&ref=ACAGCAGCAG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6936728,
"ref": "ACAGCAGCAG",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000396684.3",
"consequences": [
{
"aa_ref": "QQQH",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATN1",
"gene_hgnc_id": 3033,
"hgvs_c": "c.1500_1508delGCAGCAGCA",
"hgvs_p": "p.Gln500_Gln502del",
"transcript": "NM_001940.4",
"protein_id": "NP_001931.2",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 1190,
"cds_start": 1500,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 2088,
"cdna_end": null,
"cdna_length": 4702,
"mane_select": "ENST00000396684.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQH",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATN1",
"gene_hgnc_id": 3033,
"hgvs_c": "c.1500_1508delGCAGCAGCA",
"hgvs_p": "p.Gln500_Gln502del",
"transcript": "ENST00000396684.3",
"protein_id": "ENSP00000379915.2",
"transcript_support_level": 1,
"aa_start": 500,
"aa_end": null,
"aa_length": 1190,
"cds_start": 1500,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 2088,
"cdna_end": null,
"cdna_length": 4702,
"mane_select": "NM_001940.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQH",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATN1",
"gene_hgnc_id": 3033,
"hgvs_c": "c.1500_1508delGCAGCAGCA",
"hgvs_p": "p.Gln500_Gln502del",
"transcript": "ENST00000356654.8",
"protein_id": "ENSP00000349076.3",
"transcript_support_level": 1,
"aa_start": 500,
"aa_end": null,
"aa_length": 1190,
"cds_start": 1500,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQH",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATN1",
"gene_hgnc_id": 3033,
"hgvs_c": "c.1500_1508delGCAGCAGCA",
"hgvs_p": "p.Gln500_Gln502del",
"transcript": "NM_001007026.2",
"protein_id": "NP_001007027.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 1190,
"cds_start": 1500,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 1741,
"cdna_end": null,
"cdna_length": 4355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQH",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATN1",
"gene_hgnc_id": 3033,
"hgvs_c": "c.1500_1508delGCAGCAGCA",
"hgvs_p": "p.Gln500_Gln502del",
"transcript": "NM_001424176.1",
"protein_id": "NP_001411105.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 1190,
"cds_start": 1500,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 2399,
"cdna_end": null,
"cdna_length": 5013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQH",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATN1",
"gene_hgnc_id": 3033,
"hgvs_c": "c.1500_1508delGCAGCAGCA",
"hgvs_p": "p.Gln500_Gln502del",
"transcript": "NM_001424177.1",
"protein_id": "NP_001411106.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 1190,
"cds_start": 1500,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 2072,
"cdna_end": null,
"cdna_length": 4686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQH",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATN1",
"gene_hgnc_id": 3033,
"hgvs_c": "c.1500_1508delGCAGCAGCA",
"hgvs_p": "p.Gln500_Gln502del",
"transcript": "NM_001424178.1",
"protein_id": "NP_001411107.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 1190,
"cds_start": 1500,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 1904,
"cdna_end": null,
"cdna_length": 4518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQH",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATN1",
"gene_hgnc_id": 3033,
"hgvs_c": "c.1497_1505delGCAGCAGCA",
"hgvs_p": "p.Gln499_Gln501del",
"transcript": "NM_001424179.1",
"protein_id": "NP_001411108.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 1189,
"cds_start": 1497,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 1722,
"cdna_end": null,
"cdna_length": 4336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QQQH",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATN1",
"gene_hgnc_id": 3033,
"hgvs_c": "c.1497_1505delGCAGCAGCA",
"hgvs_p": "p.Gln499_Gln501del",
"transcript": "NM_001424180.1",
"protein_id": "NP_001411109.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 1189,
"cds_start": 1497,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 2085,
"cdna_end": null,
"cdna_length": 4699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATN1",
"gene_hgnc_id": 3033,
"dbsnp": "rs60216939",
"frequency_reference_population": 0.031382497,
"hom_count_reference_population": 1748,
"allele_count_reference_population": 49680,
"gnomad_exomes_af": 0.0263368,
"gnomad_genomes_af": 0.081443,
"gnomad_exomes_ac": 37875,
"gnomad_genomes_ac": 11805,
"gnomad_exomes_homalt": 673,
"gnomad_genomes_homalt": 1075,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 4.086,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP6,BA1",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000396684.3",
"gene_symbol": "ATN1",
"hgnc_id": 3033,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1500_1508delGCAGCAGCA",
"hgvs_p": "p.Gln500_Gln502del"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}