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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: 17-37687389-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=37687389&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"PP2",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HNF1B",
"hgnc_id": 11630,
"hgvs_c": "c.1657C>A",
"hgvs_p": "p.Pro553Thr",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": -7,
"transcript": "NM_000458.4",
"verdict": "Benign"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000277688",
"hgnc_id": null,
"hgvs_c": "n.1210+143G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000717158.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PP2,BS1,BS2",
"acmg_score": -7,
"allele_count_reference_population": 47,
"alphamissense_prediction": null,
"alphamissense_score": 0.7605,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.25,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "HNF1B-related disorder,Maturity onset diabetes mellitus in young,Nonpapillary renal cell carcinoma,Renal cysts and diabetes syndrome,Type 2 diabetes mellitus,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:6",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7277832627296448,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 557,
"aa_ref": "P",
"aa_start": 553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2790,
"cdna_start": 1832,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1657,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000458.4",
"gene_hgnc_id": 11630,
"gene_symbol": "HNF1B",
"hgvs_c": "c.1657C>A",
"hgvs_p": "p.Pro553Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000617811.5",
"protein_coding": true,
"protein_id": "NP_000449.1",
"strand": false,
"transcript": "NM_000458.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 557,
"aa_ref": "P",
"aa_start": 553,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2790,
"cdna_start": 1832,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1657,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000617811.5",
"gene_hgnc_id": 11630,
"gene_symbol": "HNF1B",
"hgvs_c": "c.1657C>A",
"hgvs_p": "p.Pro553Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000458.4",
"protein_coding": true,
"protein_id": "ENSP00000480291.1",
"strand": false,
"transcript": "ENST00000617811.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 531,
"aa_ref": "P",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1971,
"cdna_start": 1754,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1579,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000621123.4",
"gene_hgnc_id": 11630,
"gene_symbol": "HNF1B",
"hgvs_c": "c.1579C>A",
"hgvs_p": "p.Pro527Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482711.1",
"strand": false,
"transcript": "ENST00000621123.4",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 457,
"aa_ref": "S",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1546,
"cdna_start": 1399,
"cds_end": null,
"cds_length": 1374,
"cds_start": 1265,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000613727.4",
"gene_hgnc_id": 11630,
"gene_symbol": "HNF1B",
"hgvs_c": "c.1265C>A",
"hgvs_p": "p.Ser422Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477524.1",
"strand": false,
"transcript": "ENST00000613727.4",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 548,
"aa_ref": "S",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2671,
"cdna_start": 1713,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1538,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001411100.1",
"gene_hgnc_id": 11630,
"gene_symbol": "HNF1B",
"hgvs_c": "c.1538C>A",
"hgvs_p": "p.Ser513Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398029.1",
"strand": false,
"transcript": "NM_001411100.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 548,
"aa_ref": "S",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1819,
"cdna_start": 1672,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1538,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000614313.4",
"gene_hgnc_id": 11630,
"gene_symbol": "HNF1B",
"hgvs_c": "c.1538C>A",
"hgvs_p": "p.Ser513Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482529.1",
"strand": false,
"transcript": "ENST00000614313.4",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 531,
"aa_ref": "P",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2712,
"cdna_start": 1754,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1579,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001165923.4",
"gene_hgnc_id": 11630,
"gene_symbol": "HNF1B",
"hgvs_c": "c.1579C>A",
"hgvs_p": "p.Pro527Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159395.1",
"strand": false,
"transcript": "NM_001165923.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 523,
"aa_ref": "P",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2708,
"cdna_start": 1750,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1555,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000904917.1",
"gene_hgnc_id": 11630,
"gene_symbol": "HNF1B",
"hgvs_c": "c.1555C>A",
"hgvs_p": "p.Pro519Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574976.1",
"strand": false,
"transcript": "ENST00000904917.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 492,
"aa_ref": "P",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2627,
"cdna_start": 1669,
"cds_end": null,
"cds_length": 1479,
"cds_start": 1462,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000904916.1",
"gene_hgnc_id": 11630,
"gene_symbol": "HNF1B",
"hgvs_c": "c.1462C>A",
"hgvs_p": "p.Pro488Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574975.1",
"strand": false,
"transcript": "ENST00000904916.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 457,
"aa_ref": "S",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2398,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 1374,
"cds_start": 1265,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001304286.2",
"gene_hgnc_id": 11630,
"gene_symbol": "HNF1B",
"hgvs_c": "c.1265C>A",
"hgvs_p": "p.Ser422Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291215.1",
"strand": false,
"transcript": "NM_001304286.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 522,
"aa_ref": "S",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2593,
"cdna_start": 1635,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011525164.1",
"gene_hgnc_id": 11630,
"gene_symbol": "HNF1B",
"hgvs_c": "c.1460C>A",
"hgvs_p": "p.Ser487Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523466.1",
"strand": false,
"transcript": "XM_011525164.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 492,
"aa_ref": "P",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": 1637,
"cds_end": null,
"cds_length": 1479,
"cds_start": 1462,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011525161.1",
"gene_hgnc_id": 11630,
"gene_symbol": "HNF1B",
"hgvs_c": "c.1462C>A",
"hgvs_p": "p.Pro488Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523463.1",
"strand": false,
"transcript": "XM_011525161.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 466,
"aa_ref": "P",
"aa_start": 462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2517,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 1401,
"cds_start": 1384,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047436630.1",
"gene_hgnc_id": 11630,
"gene_symbol": "HNF1B",
"hgvs_c": "c.1384C>A",
"hgvs_p": "p.Pro462Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292586.1",
"strand": false,
"transcript": "XM_047436630.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1383,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000717158.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000277688",
"hgvs_c": "n.1210+143G>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000717158.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 665,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000732653.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000277688",
"hgvs_c": "n.481+143G>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000732653.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 488,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000732654.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000277688",
"hgvs_c": "n.315+143G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000732654.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 733,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000732655.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000277688",
"hgvs_c": "n.560+143G>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000732655.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 883,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000732656.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000277688",
"hgvs_c": "n.710+143G>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000732656.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs147798914",
"effect": "missense_variant",
"frequency_reference_population": 0.000029153687,
"gene_hgnc_id": 11630,
"gene_symbol": "HNF1B",
"gnomad_exomes_ac": 23,
"gnomad_exomes_af": 0.0000157537,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 24,
"gnomad_genomes_af": 0.00015772,
"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": "Uncertain significance",
"phenotype_combined": "not provided|Renal cysts and diabetes syndrome;Nonpapillary renal cell carcinoma;Type 2 diabetes mellitus|Renal cysts and diabetes syndrome|HNF1B-related disorder|Maturity onset diabetes mellitus in young",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.235,
"pos": 37687389,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.554,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000458.4"
}
]
}