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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: 5-35965421-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=35965421&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 35965421,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152404.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"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.808G>A",
"hgvs_p": "p.Gly270Ser",
"transcript": "NM_152404.4",
"protein_id": "NP_689617.3",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 523,
"cds_start": 808,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000274278.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152404.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.808G>A",
"hgvs_p": "p.Gly270Ser",
"transcript": "ENST00000274278.8",
"protein_id": "ENSP00000274278.3",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 523,
"cds_start": 808,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152404.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274278.8"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.646G>A",
"hgvs_p": "p.Gly216Ser",
"transcript": "ENST00000625798.2",
"protein_id": "ENSP00000487376.1",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 252,
"cds_start": 646,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000625798.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.706G>A",
"hgvs_p": "p.Gly236Ser",
"transcript": "ENST00000876682.1",
"protein_id": "ENSP00000546741.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 489,
"cds_start": 706,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876682.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.808G>A",
"hgvs_p": "p.Gly270Ser",
"transcript": "ENST00000503189.5",
"protein_id": "ENSP00000427079.1",
"transcript_support_level": 2,
"aa_start": 270,
"aa_end": null,
"aa_length": 436,
"cds_start": 808,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503189.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.706G>A",
"hgvs_p": "p.Gly236Ser",
"transcript": "ENST00000507113.5",
"protein_id": "ENSP00000426100.1",
"transcript_support_level": 2,
"aa_start": 236,
"aa_end": null,
"aa_length": 402,
"cds_start": 706,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507113.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.646G>A",
"hgvs_p": "p.Gly216Ser",
"transcript": "NM_001171873.2",
"protein_id": "NP_001165344.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 252,
"cds_start": 646,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171873.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.646G>A",
"hgvs_p": "p.Gly216Ser",
"transcript": "ENST00000333811.5",
"protein_id": "ENSP00000328033.4",
"transcript_support_level": 5,
"aa_start": 216,
"aa_end": null,
"aa_length": 252,
"cds_start": 646,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333811.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.817G>A",
"hgvs_p": "p.Gly273Ser",
"transcript": "XM_047416707.1",
"protein_id": "XP_047272663.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 526,
"cds_start": 817,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416707.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.715G>A",
"hgvs_p": "p.Gly239Ser",
"transcript": "XM_011513957.3",
"protein_id": "XP_011512259.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 492,
"cds_start": 715,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513957.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.706G>A",
"hgvs_p": "p.Gly236Ser",
"transcript": "XM_011513958.3",
"protein_id": "XP_011512260.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 489,
"cds_start": 706,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513958.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.646G>A",
"hgvs_p": "p.Gly216Ser",
"transcript": "XM_005248243.5",
"protein_id": "XP_005248300.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 469,
"cds_start": 646,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248243.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.646G>A",
"hgvs_p": "p.Gly216Ser",
"transcript": "XM_011513959.3",
"protein_id": "XP_011512261.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 469,
"cds_start": 646,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513959.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.646G>A",
"hgvs_p": "p.Gly216Ser",
"transcript": "XM_047416708.1",
"protein_id": "XP_047272664.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 469,
"cds_start": 646,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416708.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.469G>A",
"hgvs_p": "p.Gly157Ser",
"transcript": "XM_047416709.1",
"protein_id": "XP_047272665.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 410,
"cds_start": 469,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416709.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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.817G>A",
"hgvs_p": "p.Gly273Ser",
"transcript": "XM_047416710.1",
"protein_id": "XP_047272666.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 309,
"cds_start": 817,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416710.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.197-9557G>A",
"hgvs_p": null,
"transcript": "ENST00000876683.1",
"protein_id": "ENSP00000546742.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": null,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876683.1"
},
{
"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.*816G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000515801.5"
},
{
"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.*816G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000515801.5"
},
{
"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.189-8002G>A",
"hgvs_p": null,
"transcript": "ENST00000513233.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000513233.1"
}
],
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"dbsnp": "rs754028698",
"frequency_reference_population": 0.0000027363037,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.0000027363,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9731166958808899,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.576,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2159,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.554,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": "NM_152404.4",
"gene_symbol": "UGT3A1",
"hgnc_id": 26625,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.808G>A",
"hgvs_p": "p.Gly270Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}