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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: 5-35965868-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=35965868&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 35965868,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000274278.8",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"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": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.361T>C",
"hgvs_p": "p.Cys121Arg",
"transcript": "NM_152404.4",
"protein_id": "NP_689617.3",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 523,
"cds_start": 361,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 4918,
"mane_select": "ENST00000274278.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"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": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.361T>C",
"hgvs_p": "p.Cys121Arg",
"transcript": "ENST00000274278.8",
"protein_id": "ENSP00000274278.3",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 523,
"cds_start": 361,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 4918,
"mane_select": "NM_152404.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.199T>C",
"hgvs_p": "p.Cys67Arg",
"transcript": "ENST00000625798.2",
"protein_id": "ENSP00000487376.1",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 252,
"cds_start": 199,
"cds_end": null,
"cds_length": 759,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.361T>C",
"hgvs_p": "p.Cys121Arg",
"transcript": "ENST00000503189.5",
"protein_id": "ENSP00000427079.1",
"transcript_support_level": 2,
"aa_start": 121,
"aa_end": null,
"aa_length": 436,
"cds_start": 361,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 1902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"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": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.259T>C",
"hgvs_p": "p.Cys87Arg",
"transcript": "ENST00000507113.5",
"protein_id": "ENSP00000426100.1",
"transcript_support_level": 2,
"aa_start": 87,
"aa_end": null,
"aa_length": 402,
"cds_start": 259,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.199T>C",
"hgvs_p": "p.Cys67Arg",
"transcript": "NM_001171873.2",
"protein_id": "NP_001165344.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 252,
"cds_start": 199,
"cds_end": null,
"cds_length": 759,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 3091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"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": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.199T>C",
"hgvs_p": "p.Cys67Arg",
"transcript": "ENST00000333811.5",
"protein_id": "ENSP00000328033.4",
"transcript_support_level": 5,
"aa_start": 67,
"aa_end": null,
"aa_length": 252,
"cds_start": 199,
"cds_end": null,
"cds_length": 759,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 1114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.370T>C",
"hgvs_p": "p.Cys124Arg",
"transcript": "XM_047416707.1",
"protein_id": "XP_047272663.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 526,
"cds_start": 370,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 4815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"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": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.268T>C",
"hgvs_p": "p.Cys90Arg",
"transcript": "XM_011513957.3",
"protein_id": "XP_011512259.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 492,
"cds_start": 268,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 4713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.259T>C",
"hgvs_p": "p.Cys87Arg",
"transcript": "XM_011513958.3",
"protein_id": "XP_011512260.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 489,
"cds_start": 259,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 4816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"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": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.199T>C",
"hgvs_p": "p.Cys67Arg",
"transcript": "XM_005248243.5",
"protein_id": "XP_005248300.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 469,
"cds_start": 199,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 4850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.199T>C",
"hgvs_p": "p.Cys67Arg",
"transcript": "XM_011513959.3",
"protein_id": "XP_011512261.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 469,
"cds_start": 199,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 4820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.199T>C",
"hgvs_p": "p.Cys67Arg",
"transcript": "XM_047416708.1",
"protein_id": "XP_047272664.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 469,
"cds_start": 199,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 4780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.22T>C",
"hgvs_p": "p.Cys8Arg",
"transcript": "XM_047416709.1",
"protein_id": "XP_047272665.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 410,
"cds_start": 22,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 220,
"cdna_end": null,
"cdna_length": 4627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.370T>C",
"hgvs_p": "p.Cys124Arg",
"transcript": "XM_047416710.1",
"protein_id": "XP_047272666.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 309,
"cds_start": 370,
"cds_end": null,
"cds_length": 930,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 1079,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "n.*369T>C",
"hgvs_p": null,
"transcript": "ENST00000515801.5",
"protein_id": "ENSP00000427630.1",
"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": 5002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "n.*369T>C",
"hgvs_p": null,
"transcript": "ENST00000515801.5",
"protein_id": "ENSP00000427630.1",
"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": 5002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "n.189-8449T>C",
"hgvs_p": null,
"transcript": "ENST00000513233.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"dbsnp": "rs3756669",
"frequency_reference_population": 0.000002071703,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.0000020717,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.984334409236908,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.496,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9626,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.525,
"phylop100way_prediction": "Benign",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000274278.8",
"gene_symbol": "UGT3A1",
"hgnc_id": 26625,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.361T>C",
"hgvs_p": "p.Cys121Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}