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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: 20-44406208-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=44406208&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3",
"PM2_Supporting",
"PS4",
"PP1_Strong",
"PM5_Supporting",
"PP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HNF4A",
"hgnc_id": 5024,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"inheritance_mode": "AD",
"pathogenic_score": 13,
"score": 13,
"transcript": "NM_000457.6",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PP3,PM2_Supporting,PS4,PP1_Strong,PM5_Supporting,PP4_Moderate",
"acmg_score": 13,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.9978,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.5,
"chr": "20",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young,Hyperinsulinism due to HNF4A deficiency,Maturity onset diabetes mellitus in young,Maturity-onset diabetes of the young type 1,Monogenic diabetes,Type 2 diabetes mellitus,not provided",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:7 LP:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9580059051513672,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 452,
"aa_ref": "R",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4645,
"cdna_start": 306,
"cds_end": null,
"cds_length": 1359,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_175914.5",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000316673.9",
"protein_coding": true,
"protein_id": "NP_787110.2",
"strand": true,
"transcript": "NM_175914.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 452,
"aa_ref": "R",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4645,
"cdna_start": 306,
"cds_end": null,
"cds_length": 1359,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000316673.9",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_175914.5",
"protein_coding": true,
"protein_id": "ENSP00000315180.4",
"strand": true,
"transcript": "ENST00000316673.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 474,
"aa_ref": "R",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4739,
"cdna_start": 400,
"cds_end": null,
"cds_length": 1425,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000316099.10",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000312987.3",
"strand": true,
"transcript": "ENST00000316099.10",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2302,
"cdna_start": 338,
"cds_end": null,
"cds_length": 1395,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000415691.2",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412111.1",
"strand": true,
"transcript": "ENST00000415691.2",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 442,
"aa_ref": "R",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1339,
"cdna_start": 204,
"cds_end": null,
"cds_length": 1329,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000457232.5",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396216.1",
"strand": true,
"transcript": "ENST00000457232.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1603,
"cdna_start": 355,
"cds_end": null,
"cds_length": 1254,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000443598.6",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410911.2",
"strand": true,
"transcript": "ENST00000443598.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1192,
"cdna_start": 204,
"cds_end": null,
"cds_length": 1188,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000609795.5",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476609.1",
"strand": true,
"transcript": "ENST00000609795.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 102,
"aa_ref": "R",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 540,
"cdna_start": 422,
"cds_end": null,
"cds_length": 309,
"cds_start": 191,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000609262.5",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Arg64Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476310.1",
"strand": true,
"transcript": "ENST00000609262.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3340,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000372920.1",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "n.*33G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000362011.1",
"strand": true,
"transcript": "ENST00000372920.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3340,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000372920.1",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "n.*33G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000362011.1",
"strand": true,
"transcript": "ENST00000372920.1",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 474,
"aa_ref": "R",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4739,
"cdna_start": 400,
"cds_end": null,
"cds_length": 1425,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_000457.6",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000448.3",
"strand": true,
"transcript": "NM_000457.6",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 467,
"aa_ref": "R",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6581,
"cdna_start": 491,
"cds_end": null,
"cds_length": 1404,
"cds_start": 245,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001258355.2",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Arg82Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245284.1",
"strand": true,
"transcript": "NM_001258355.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6460,
"cdna_start": 400,
"cds_end": null,
"cds_length": 1395,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_178849.3",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_849180.1",
"strand": true,
"transcript": "NM_178849.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 449,
"aa_ref": "R",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4867,
"cdna_start": 528,
"cds_end": null,
"cds_length": 1350,
"cds_start": 191,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001287183.2",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Arg64Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274112.1",
"strand": true,
"transcript": "NM_001287183.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 442,
"aa_ref": "R",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6366,
"cdna_start": 306,
"cds_end": null,
"cds_length": 1329,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001030003.3",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001025174.1",
"strand": true,
"transcript": "NM_001030003.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 439,
"aa_ref": "R",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6588,
"cdna_start": 528,
"cds_end": null,
"cds_length": 1320,
"cds_start": 191,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001287182.2",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Arg64Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274111.1",
"strand": true,
"transcript": "NM_001287182.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1652,
"cdna_start": 400,
"cds_end": null,
"cds_length": 1254,
"cds_start": 266,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_178850.3",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_849181.1",
"strand": true,
"transcript": "NM_178850.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1558,
"cdna_start": 306,
"cds_end": null,
"cds_length": 1188,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001030004.3",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001025175.1",
"strand": true,
"transcript": "NM_001030004.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 392,
"aa_ref": "R",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 528,
"cds_end": null,
"cds_length": 1179,
"cds_start": 191,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001287184.2",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Arg64Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274113.1",
"strand": true,
"transcript": "NM_001287184.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1361,
"cdna_start": 240,
"cds_end": null,
"cds_length": 1131,
"cds_start": 239,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000619550.5",
"gene_hgnc_id": 5024,
"gene_symbol": "HNF4A",
"hgvs_c": "c.239G>A",
"hgvs_p": "p.Arg80Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481331.2",
"strand": true,
"transcript": "ENST00000619550.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 373,
"aa_ref": "R",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4403,
"cdna_start": 304,
"cds_end": null,
"cds_length": 1122,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000894460.1",
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}