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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: 17-37731814-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=37731814&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 37731814,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000617811.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.826C>G",
"hgvs_p": "p.Arg276Gly",
"transcript": "NM_000458.4",
"protein_id": "NP_000449.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 557,
"cds_start": 826,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 2790,
"mane_select": "ENST00000617811.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.826C>G",
"hgvs_p": "p.Arg276Gly",
"transcript": "ENST00000617811.5",
"protein_id": "ENSP00000480291.1",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 557,
"cds_start": 826,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 2790,
"mane_select": "NM_000458.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "ENST00000621123.4",
"protein_id": "ENSP00000482711.1",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 531,
"cds_start": 748,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "ENST00000613727.4",
"protein_id": "ENSP00000477524.1",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 457,
"cds_start": 748,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.826C>G",
"hgvs_p": "p.Arg276Gly",
"transcript": "NM_001411100.1",
"protein_id": "NP_001398029.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 548,
"cds_start": 826,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.826C>G",
"hgvs_p": "p.Arg276Gly",
"transcript": "ENST00000614313.4",
"protein_id": "ENSP00000482529.1",
"transcript_support_level": 5,
"aa_start": 276,
"aa_end": null,
"aa_length": 548,
"cds_start": 826,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "NM_001165923.4",
"protein_id": "NP_001159395.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 531,
"cds_start": 748,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "NM_001304286.2",
"protein_id": "NP_001291215.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 457,
"cds_start": 748,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 2398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "XM_011525164.1",
"protein_id": "XP_011523466.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 522,
"cds_start": 748,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.826C>G",
"hgvs_p": "p.Arg276Gly",
"transcript": "XM_011525161.1",
"protein_id": "XP_011523463.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 492,
"cds_start": 826,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "XM_047436630.1",
"protein_id": "XP_047292586.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 466,
"cds_start": 748,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 2517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.826C>G",
"hgvs_p": "p.Arg276Gly",
"transcript": "XM_011525162.3",
"protein_id": "XP_011523464.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 380,
"cds_start": 826,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "XM_047436631.1",
"protein_id": "XP_047292587.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 354,
"cds_start": 748,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 1446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "c.826C>G",
"hgvs_p": "p.Arg276Gly",
"transcript": "XM_011525163.3",
"protein_id": "XP_011523465.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 353,
"cds_start": 826,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1001,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1B",
"gene_hgnc_id": 11630,
"hgvs_c": "n.278C>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": "rs121918672",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9793764352798462,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.934,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9987,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.32,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.085,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.09,
"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": 19,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 19,
"benign_score": 0,
"pathogenic_score": 19,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000617811.5",
"gene_symbol": "HNF1B",
"hgnc_id": 11630,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.826C>G",
"hgvs_p": "p.Arg276Gly"
}
],
"clinvar_disease": "HNF1B-related disorder,Renal cysts and diabetes syndrome",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Renal cysts and diabetes syndrome|HNF1B-related disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}