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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: 17-37733682-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=37733682&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 37733682,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000617811.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.684C>G",
"hgvs_p": "p.Asn228Lys",
"transcript": "NM_000458.4",
"protein_id": "NP_000449.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 557,
"cds_start": 684,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 2790,
"mane_select": "ENST00000617811.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.684C>G",
"hgvs_p": "p.Asn228Lys",
"transcript": "ENST00000617811.5",
"protein_id": "ENSP00000480291.1",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 557,
"cds_start": 684,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 2790,
"mane_select": "NM_000458.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.606C>G",
"hgvs_p": "p.Asn202Lys",
"transcript": "ENST00000621123.4",
"protein_id": "ENSP00000482711.1",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 531,
"cds_start": 606,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.606C>G",
"hgvs_p": "p.Asn202Lys",
"transcript": "ENST00000613727.4",
"protein_id": "ENSP00000477524.1",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 457,
"cds_start": 606,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.684C>G",
"hgvs_p": "p.Asn228Lys",
"transcript": "NM_001411100.1",
"protein_id": "NP_001398029.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 548,
"cds_start": 684,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.684C>G",
"hgvs_p": "p.Asn228Lys",
"transcript": "ENST00000614313.4",
"protein_id": "ENSP00000482529.1",
"transcript_support_level": 5,
"aa_start": 228,
"aa_end": null,
"aa_length": 548,
"cds_start": 684,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.606C>G",
"hgvs_p": "p.Asn202Lys",
"transcript": "NM_001165923.4",
"protein_id": "NP_001159395.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 531,
"cds_start": 606,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.606C>G",
"hgvs_p": "p.Asn202Lys",
"transcript": "NM_001304286.2",
"protein_id": "NP_001291215.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 457,
"cds_start": 606,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 2398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.606C>G",
"hgvs_p": "p.Asn202Lys",
"transcript": "XM_011525164.1",
"protein_id": "XP_011523466.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 522,
"cds_start": 606,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.684C>G",
"hgvs_p": "p.Asn228Lys",
"transcript": "XM_011525161.1",
"protein_id": "XP_011523463.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 492,
"cds_start": 684,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.606C>G",
"hgvs_p": "p.Asn202Lys",
"transcript": "XM_047436630.1",
"protein_id": "XP_047292586.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 466,
"cds_start": 606,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 2517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.684C>G",
"hgvs_p": "p.Asn228Lys",
"transcript": "XM_011525162.3",
"protein_id": "XP_011523464.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 380,
"cds_start": 684,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.606C>G",
"hgvs_p": "p.Asn202Lys",
"transcript": "XM_047436631.1",
"protein_id": "XP_047292587.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 354,
"cds_start": 606,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.684C>G",
"hgvs_p": "p.Asn228Lys",
"transcript": "XM_011525163.3",
"protein_id": "XP_011523465.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 353,
"cds_start": 684,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 1561,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "n.136C>G",
"hgvs_p": null,
"transcript": "ENST00000618894.1",
"protein_id": null,
"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": 3481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"dbsnp": "rs202151409",
"frequency_reference_population": 0.00045476342,
"hom_count_reference_population": 7,
"allele_count_reference_population": 734,
"gnomad_exomes_af": 0.000433691,
"gnomad_genomes_af": 0.000657229,
"gnomad_exomes_ac": 634,
"gnomad_genomes_ac": 100,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008452057838439941,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.224,
"revel_prediction": "Benign",
"alphamissense_score": 0.4592,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.747,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "PM1,PP2,BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 20,
"pathogenic_score": 3,
"criteria": [
"PM1",
"PP2",
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000617811.5",
"gene_symbol": "HNF1B",
"hgnc_id": 11630,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.684C>G",
"hgvs_p": "p.Asn228Lys"
}
],
"clinvar_disease": "Maturity onset diabetes mellitus in young,Renal cysts and diabetes syndrome,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:6",
"phenotype_combined": "Renal cysts and diabetes syndrome|not specified|not provided|Maturity onset diabetes mellitus in young",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}