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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: 16-81264677-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=81264677&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 81264677,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000258168.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO1",
"gene_hgnc_id": 13815,
"hgvs_c": "c.509C>A",
"hgvs_p": "p.Thr170Lys",
"transcript": "NM_017429.3",
"protein_id": "NP_059125.2",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 547,
"cds_start": 509,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 2429,
"mane_select": "ENST00000258168.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO1",
"gene_hgnc_id": 13815,
"hgvs_c": "c.509C>A",
"hgvs_p": "p.Thr170Lys",
"transcript": "ENST00000258168.7",
"protein_id": "ENSP00000258168.2",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 547,
"cds_start": 509,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 2429,
"mane_select": "NM_017429.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO1",
"gene_hgnc_id": 13815,
"hgvs_c": "c.509C>A",
"hgvs_p": "p.Thr170Lys",
"transcript": "XM_011523109.3",
"protein_id": "XP_011521411.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 480,
"cds_start": 509,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO1",
"gene_hgnc_id": 13815,
"hgvs_c": "c.509C>A",
"hgvs_p": "p.Thr170Lys",
"transcript": "XM_017023286.3",
"protein_id": "XP_016878775.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 478,
"cds_start": 509,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO1",
"gene_hgnc_id": 13815,
"hgvs_c": "c.509C>A",
"hgvs_p": "p.Thr170Lys",
"transcript": "XM_017023287.3",
"protein_id": "XP_016878776.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 435,
"cds_start": 509,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 2317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO1",
"gene_hgnc_id": 13815,
"hgvs_c": "c.509C>A",
"hgvs_p": "p.Thr170Lys",
"transcript": "XM_017023288.3",
"protein_id": "XP_016878777.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 406,
"cds_start": 509,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO1",
"gene_hgnc_id": 13815,
"hgvs_c": "c.509C>A",
"hgvs_p": "p.Thr170Lys",
"transcript": "XM_047434214.1",
"protein_id": "XP_047290170.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 276,
"cds_start": 509,
"cds_end": null,
"cds_length": 831,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 1138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO1",
"gene_hgnc_id": 13815,
"hgvs_c": "n.*133C>A",
"hgvs_p": null,
"transcript": "ENST00000563804.5",
"protein_id": "ENSP00000457910.1",
"transcript_support_level": 2,
"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": 1857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO1",
"gene_hgnc_id": 13815,
"hgvs_c": "c.-135C>A",
"hgvs_p": null,
"transcript": "XM_017023289.2",
"protein_id": "XP_016878778.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCO1",
"gene_hgnc_id": 13815,
"hgvs_c": "n.*133C>A",
"hgvs_p": null,
"transcript": "ENST00000563804.5",
"protein_id": "ENSP00000457910.1",
"transcript_support_level": 2,
"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": 1857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BCO1",
"gene_hgnc_id": 13815,
"dbsnp": "rs119478057",
"frequency_reference_population": 0.0000043371047,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410449,
"gnomad_genomes_af": 0.00000657177,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9834281206130981,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.23000000417232513,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.931,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9765,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.437,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.23,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong,BS2",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 4,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000258168.7",
"gene_symbol": "BCO1",
"hgnc_id": 13815,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.509C>A",
"hgvs_p": "p.Thr170Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}