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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: 5-35955668-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=35955668&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UGT3A1",
"hgnc_id": 26625,
"hgvs_c": "c.1272G>A",
"hgvs_p": "p.Met424Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_152404.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 385,
"alphamissense_prediction": null,
"alphamissense_score": 0.4028,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.031102091073989868,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 523,
"aa_ref": "M",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4918,
"cdna_start": 1422,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1272,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_152404.4",
"gene_hgnc_id": 26625,
"gene_symbol": "UGT3A1",
"hgvs_c": "c.1272G>A",
"hgvs_p": "p.Met424Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000274278.8",
"protein_coding": true,
"protein_id": "NP_689617.3",
"strand": false,
"transcript": "NM_152404.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 523,
"aa_ref": "M",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4918,
"cdna_start": 1422,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1272,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000274278.8",
"gene_hgnc_id": 26625,
"gene_symbol": "UGT3A1",
"hgvs_c": "c.1272G>A",
"hgvs_p": "p.Met424Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152404.4",
"protein_coding": true,
"protein_id": "ENSP00000274278.3",
"strand": false,
"transcript": "ENST00000274278.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 489,
"aa_ref": "M",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2758,
"cdna_start": 1346,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1170,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876682.1",
"gene_hgnc_id": 26625,
"gene_symbol": "UGT3A1",
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Met390Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546741.1",
"strand": false,
"transcript": "ENST00000876682.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 436,
"aa_ref": "M",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1902,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 1311,
"cds_start": 1272,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000503189.5",
"gene_hgnc_id": 26625,
"gene_symbol": "UGT3A1",
"hgvs_c": "c.1272G>A",
"hgvs_p": "p.Met424Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427079.1",
"strand": false,
"transcript": "ENST00000503189.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 402,
"aa_ref": "M",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1650,
"cdna_start": 1363,
"cds_end": null,
"cds_length": 1209,
"cds_start": 1170,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000507113.5",
"gene_hgnc_id": 26625,
"gene_symbol": "UGT3A1",
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Met390Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426100.1",
"strand": false,
"transcript": "ENST00000507113.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 230,
"aa_ref": "M",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1966,
"cdna_start": 572,
"cds_end": null,
"cds_length": 693,
"cds_start": 393,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000876683.1",
"gene_hgnc_id": 26625,
"gene_symbol": "UGT3A1",
"hgvs_c": "c.393G>A",
"hgvs_p": "p.Met131Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546742.1",
"strand": false,
"transcript": "ENST00000876683.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 526,
"aa_ref": "M",
"aa_start": 427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4815,
"cdna_start": 1319,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1281,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047416707.1",
"gene_hgnc_id": 26625,
"gene_symbol": "UGT3A1",
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Met427Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272663.1",
"strand": false,
"transcript": "XM_047416707.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 492,
"aa_ref": "M",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4713,
"cdna_start": 1217,
"cds_end": null,
"cds_length": 1479,
"cds_start": 1179,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011513957.3",
"gene_hgnc_id": 26625,
"gene_symbol": "UGT3A1",
"hgvs_c": "c.1179G>A",
"hgvs_p": "p.Met393Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512259.1",
"strand": false,
"transcript": "XM_011513957.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 489,
"aa_ref": "M",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4816,
"cdna_start": 1320,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1170,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011513958.3",
"gene_hgnc_id": 26625,
"gene_symbol": "UGT3A1",
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Met390Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512260.1",
"strand": false,
"transcript": "XM_011513958.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 469,
"aa_ref": "M",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4850,
"cdna_start": 1354,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1110,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005248243.5",
"gene_hgnc_id": 26625,
"gene_symbol": "UGT3A1",
"hgvs_c": "c.1110G>A",
"hgvs_p": "p.Met370Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005248300.1",
"strand": false,
"transcript": "XM_005248243.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 469,
"aa_ref": "M",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4820,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1110,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011513959.3",
"gene_hgnc_id": 26625,
"gene_symbol": "UGT3A1",
"hgvs_c": "c.1110G>A",
"hgvs_p": "p.Met370Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512261.1",
"strand": false,
"transcript": "XM_011513959.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 469,
"aa_ref": "M",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4780,
"cdna_start": 1284,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1110,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047416708.1",
"gene_hgnc_id": 26625,
"gene_symbol": "UGT3A1",
"hgvs_c": "c.1110G>A",
"hgvs_p": "p.Met370Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272664.1",
"strand": false,
"transcript": "XM_047416708.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 410,
"aa_ref": "M",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4627,
"cdna_start": 1131,
"cds_end": null,
"cds_length": 1233,
"cds_start": 933,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047416709.1",
"gene_hgnc_id": 26625,
"gene_symbol": "UGT3A1",
"hgvs_c": "c.933G>A",
"hgvs_p": "p.Met311Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272665.1",
"strand": false,
"transcript": "XM_047416709.1",
"transcript_support_level": null
},
{
"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": 5002,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000515801.5",
"gene_hgnc_id": 26625,
"gene_symbol": "UGT3A1",
"hgvs_c": "n.*2243G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000427630.1",
"strand": false,
"transcript": "ENST00000515801.5",
"transcript_support_level": 2
},
{
"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": 5002,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000515801.5",
"gene_hgnc_id": 26625,
"gene_symbol": "UGT3A1",
"hgvs_c": "n.*2243G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000427630.1",
"strand": false,
"transcript": "ENST00000515801.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 556,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000513233.1",
"gene_hgnc_id": 26625,
"gene_symbol": "UGT3A1",
"hgvs_c": "n.*61G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000513233.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs199844466",
"effect": "missense_variant",
"frequency_reference_population": 0.00023850765,
"gene_hgnc_id": 26625,
"gene_symbol": "UGT3A1",
"gnomad_exomes_ac": 351,
"gnomad_exomes_af": 0.0002401,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 34,
"gnomad_genomes_af": 0.000223223,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.817,
"pos": 35955668,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.071,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.05999999865889549,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.06,
"transcript": "NM_152404.4"
}
]
}