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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: 19-47228208-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=47228208&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BBC3",
"hgnc_id": 17868,
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Phe",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_014417.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 19,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.215,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.08,
"chr": "19",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1038246750831604,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 193,
"aa_ref": "S",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1846,
"cdna_start": 510,
"cds_end": null,
"cds_length": 582,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_014417.5",
"gene_hgnc_id": 17868,
"gene_symbol": "BBC3",
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000439096.3",
"protein_coding": true,
"protein_id": "NP_055232.1",
"strand": false,
"transcript": "NM_014417.5",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 193,
"aa_ref": "S",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1846,
"cdna_start": 510,
"cds_end": null,
"cds_length": 582,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000439096.3",
"gene_hgnc_id": 17868,
"gene_symbol": "BBC3",
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014417.5",
"protein_coding": true,
"protein_id": "ENSP00000395862.2",
"strand": false,
"transcript": "ENST00000439096.3",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 261,
"aa_ref": "F",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1827,
"cdna_start": 491,
"cds_end": null,
"cds_length": 786,
"cds_start": 327,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000449228.5",
"gene_hgnc_id": 17868,
"gene_symbol": "BBC3",
"hgvs_c": "c.327C>T",
"hgvs_p": "p.Phe109Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404503.1",
"strand": false,
"transcript": "ENST00000449228.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 131,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1538,
"cdna_start": null,
"cds_end": null,
"cds_length": 396,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000341983.8",
"gene_hgnc_id": 17868,
"gene_symbol": "BBC3",
"hgvs_c": "c.89-1454C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341155.4",
"strand": false,
"transcript": "ENST00000341983.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 101,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1347,
"cdna_start": null,
"cds_end": null,
"cds_length": 306,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000300880.11",
"gene_hgnc_id": 17868,
"gene_symbol": "BBC3",
"hgvs_c": "c.88+4307C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000300880.7",
"strand": false,
"transcript": "ENST00000300880.11",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 193,
"aa_ref": "S",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1813,
"cdna_start": 477,
"cds_end": null,
"cds_length": 582,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000899307.1",
"gene_hgnc_id": 17868,
"gene_symbol": "BBC3",
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569366.1",
"strand": false,
"transcript": "ENST00000899307.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 193,
"aa_ref": "S",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1652,
"cdna_start": 316,
"cds_end": null,
"cds_length": 582,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000899308.1",
"gene_hgnc_id": 17868,
"gene_symbol": "BBC3",
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569367.1",
"strand": false,
"transcript": "ENST00000899308.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 193,
"aa_ref": "S",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3660,
"cdna_start": 2322,
"cds_end": null,
"cds_length": 582,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000899309.1",
"gene_hgnc_id": 17868,
"gene_symbol": "BBC3",
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569368.1",
"strand": false,
"transcript": "ENST00000899309.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 193,
"aa_ref": "S",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1668,
"cdna_start": 332,
"cds_end": null,
"cds_length": 582,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000899310.1",
"gene_hgnc_id": 17868,
"gene_symbol": "BBC3",
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569369.1",
"strand": false,
"transcript": "ENST00000899310.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 193,
"aa_ref": "S",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1725,
"cdna_start": 389,
"cds_end": null,
"cds_length": 582,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000899311.1",
"gene_hgnc_id": 17868,
"gene_symbol": "BBC3",
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569370.1",
"strand": false,
"transcript": "ENST00000899311.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 193,
"aa_ref": "S",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1596,
"cdna_start": 260,
"cds_end": null,
"cds_length": 582,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000919804.1",
"gene_hgnc_id": 17868,
"gene_symbol": "BBC3",
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589863.1",
"strand": false,
"transcript": "ENST00000919804.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 193,
"aa_ref": "S",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2009,
"cdna_start": 673,
"cds_end": null,
"cds_length": 582,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000919805.1",
"gene_hgnc_id": 17868,
"gene_symbol": "BBC3",
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589864.1",
"strand": false,
"transcript": "ENST00000919805.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 193,
"aa_ref": "S",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2797,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 582,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000919806.1",
"gene_hgnc_id": 17868,
"gene_symbol": "BBC3",
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589865.1",
"strand": false,
"transcript": "ENST00000919806.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 209,
"aa_ref": "S",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1705,
"cdna_start": 369,
"cds_end": null,
"cds_length": 630,
"cds_start": 272,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011526722.3",
"gene_hgnc_id": 17868,
"gene_symbol": "BBC3",
"hgvs_c": "c.272C>T",
"hgvs_p": "p.Ser91Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011525024.1",
"strand": false,
"transcript": "XM_011526722.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 193,
"aa_ref": "S",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1654,
"cdna_start": 318,
"cds_end": null,
"cds_length": 582,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_006723141.4",
"gene_hgnc_id": 17868,
"gene_symbol": "BBC3",
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006723204.1",
"strand": false,
"transcript": "XM_006723141.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 193,
"aa_ref": "S",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1590,
"cdna_start": 254,
"cds_end": null,
"cds_length": 582,
"cds_start": 224,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047438606.1",
"gene_hgnc_id": 17868,
"gene_symbol": "BBC3",
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294562.1",
"strand": false,
"transcript": "XM_047438606.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 261,
"aa_ref": "F",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1728,
"cdna_start": 392,
"cds_end": null,
"cds_length": 786,
"cds_start": 327,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001127240.3",
"gene_hgnc_id": 17868,
"gene_symbol": "BBC3",
"hgvs_c": "c.327C>T",
"hgvs_p": "p.Phe109Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120712.1",
"strand": false,
"transcript": "NM_001127240.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 131,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1439,
"cdna_start": null,
"cds_end": null,
"cds_length": 396,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127241.3",
"gene_hgnc_id": 17868,
"gene_symbol": "BBC3",
"hgvs_c": "c.89-1454C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120713.1",
"strand": false,
"transcript": "NM_001127241.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 101,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1248,
"cdna_start": null,
"cds_end": null,
"cds_length": 306,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127242.3",
"gene_hgnc_id": 17868,
"gene_symbol": "BBC3",
"hgvs_c": "c.88+4307C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120714.1",
"strand": false,
"transcript": "NM_001127242.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs374925052",
"effect": "missense_variant",
"frequency_reference_population": 0.000017300912,
"gene_hgnc_id": 17868,
"gene_symbol": "BBC3",
"gnomad_exomes_ac": 18,
"gnomad_exomes_af": 0.0000188861,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000689056,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.265,
"pos": 47228208,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.248,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_014417.5"
}
]
}