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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: 2-233772309-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=233772309&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PP3",
"BP4_Strong",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UGT1A4",
"hgnc_id": 12536,
"hgvs_c": "c.1355C>T",
"hgvs_p": "p.Pro452Leu",
"inheritance_mode": "",
"pathogenic_score": 1,
"score": -4,
"transcript": "NM_007120.3",
"verdict": "Likely_benign"
},
{
"benign_score": 5,
"criteria": [
"PP3",
"BP4_Strong",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UGT1A5",
"hgnc_id": 12537,
"hgvs_c": "c.1355C>T",
"hgvs_p": "p.Pro452Leu",
"inheritance_mode": "",
"pathogenic_score": 1,
"score": -4,
"transcript": "NM_019078.2",
"verdict": "Likely_benign"
},
{
"benign_score": 5,
"criteria": [
"PP3",
"BP4_Strong",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UGT1A3",
"hgnc_id": 12535,
"hgvs_c": "c.1355C>T",
"hgvs_p": "p.Pro452Leu",
"inheritance_mode": "",
"pathogenic_score": 1,
"score": -4,
"transcript": "NM_019093.4",
"verdict": "Likely_benign"
},
{
"benign_score": 5,
"criteria": [
"PP2",
"PP3",
"BP4_Strong",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UGT1A1",
"hgnc_id": 12530,
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Pro451Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_000463.3",
"verdict": "Likely_benign"
},
{
"benign_score": 9,
"criteria": [
"PP2",
"PP3",
"BP4_Strong",
"BP6",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UGT1A6",
"hgnc_id": 12538,
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Pro450Leu",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -7,
"transcript": "NM_001072.4",
"verdict": "Benign"
},
{
"benign_score": 5,
"criteria": [
"PP3",
"BP4_Strong",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UGT1A10",
"hgnc_id": 12531,
"hgvs_c": "c.1343C>T",
"hgvs_p": "p.Pro448Leu",
"inheritance_mode": "",
"pathogenic_score": 1,
"score": -4,
"transcript": "NM_019075.4",
"verdict": "Likely_benign"
},
{
"benign_score": 5,
"criteria": [
"PP3",
"BP4_Strong",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UGT1A8",
"hgnc_id": 12540,
"hgvs_c": "c.1343C>T",
"hgvs_p": "p.Pro448Leu",
"inheritance_mode": "",
"pathogenic_score": 1,
"score": -4,
"transcript": "NM_019076.5",
"verdict": "Likely_benign"
},
{
"benign_score": 5,
"criteria": [
"PP3",
"BP4_Strong",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UGT1A7",
"hgnc_id": 12539,
"hgvs_c": "c.1343C>T",
"hgvs_p": "p.Pro448Leu",
"inheritance_mode": "",
"pathogenic_score": 1,
"score": -4,
"transcript": "NM_019077.3",
"verdict": "Likely_benign"
},
{
"benign_score": 5,
"criteria": [
"PP3",
"BP4_Strong",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UGT1A9",
"hgnc_id": 12541,
"hgvs_c": "c.1343C>T",
"hgvs_p": "p.Pro448Leu",
"inheritance_mode": "",
"pathogenic_score": 1,
"score": -4,
"transcript": "NM_021027.3",
"verdict": "Likely_benign"
},
{
"benign_score": 5,
"criteria": [
"PP3",
"BP4_Strong",
"BP6"
],
"effects": [
"intragenic_variant"
],
"gene_symbol": "UGT1A",
"hgnc_id": 12529,
"hgvs_c": "n.233772309C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": -4,
"transcript": "",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BP4_Strong,BP6",
"acmg_score": -4,
"allele_count_reference_population": 377,
"alphamissense_prediction": null,
"alphamissense_score": 0.2905,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.26,
"chr": "2",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " QUANTITATIVE TRAIT LOCUS 1, SERUM LEVEL OF, type II,BILIRUBIN,Crigler-Najjar syndrome,Crigler-Najjar syndrome type 1,Gilbert syndrome,Lucey-Driscoll syndrome,UGT1A1-related disorder,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.030352622270584106,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2431,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1355,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_007120.3",
"gene_hgnc_id": 12536,
"gene_symbol": "UGT1A4",
"hgvs_c": "c.1355C>T",
"hgvs_p": "p.Pro452Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373409.8",
"protein_coding": true,
"protein_id": "NP_009051.1",
"strand": true,
"transcript": "NM_007120.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2431,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1355,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_019078.2",
"gene_hgnc_id": 12537,
"gene_symbol": "UGT1A5",
"hgvs_c": "c.1355C>T",
"hgvs_p": "p.Pro452Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373414.4",
"protein_coding": true,
"protein_id": "NP_061951.1",
"strand": true,
"transcript": "NM_019078.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2431,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1355,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_019093.4",
"gene_hgnc_id": 12535,
"gene_symbol": "UGT1A3",
"hgvs_c": "c.1355C>T",
"hgvs_p": "p.Pro452Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000482026.6",
"protein_coding": true,
"protein_id": "NP_061966.1",
"strand": true,
"transcript": "NM_019093.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2431,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1355,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000373409.8",
"gene_hgnc_id": 12536,
"gene_symbol": "UGT1A4",
"hgvs_c": "c.1355C>T",
"hgvs_p": "p.Pro452Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007120.3",
"protein_coding": true,
"protein_id": "ENSP00000362508.4",
"strand": true,
"transcript": "ENST00000373409.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2431,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1355,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000373414.4",
"gene_hgnc_id": 12537,
"gene_symbol": "UGT1A5",
"hgvs_c": "c.1355C>T",
"hgvs_p": "p.Pro452Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_019078.2",
"protein_coding": true,
"protein_id": "ENSP00000362513.3",
"strand": true,
"transcript": "ENST00000373414.4",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 534,
"aa_ref": "P",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2431,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1355,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000482026.6",
"gene_hgnc_id": 12535,
"gene_symbol": "UGT1A3",
"hgvs_c": "c.1355C>T",
"hgvs_p": "p.Pro452Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_019093.4",
"protein_coding": true,
"protein_id": "ENSP00000418532.1",
"strand": true,
"transcript": "ENST00000482026.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 533,
"aa_ref": "P",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": 1370,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_000463.3",
"gene_hgnc_id": 12530,
"gene_symbol": "UGT1A1",
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Pro451Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000305208.10",
"protein_coding": true,
"protein_id": "NP_000454.1",
"strand": true,
"transcript": "NM_000463.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 533,
"aa_ref": "P",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": 1370,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000305208.10",
"gene_hgnc_id": 12530,
"gene_symbol": "UGT1A1",
"hgvs_c": "c.1352C>T",
"hgvs_p": "p.Pro451Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000463.3",
"protein_coding": true,
"protein_id": "ENSP00000304845.5",
"strand": true,
"transcript": "ENST00000305208.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 532,
"aa_ref": "P",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": 1464,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1349,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001072.4",
"gene_hgnc_id": 12538,
"gene_symbol": "UGT1A6",
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Pro450Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000305139.11",
"protein_coding": true,
"protein_id": "NP_001063.2",
"strand": true,
"transcript": "NM_001072.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 532,
"aa_ref": "P",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": 1464,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1349,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000305139.11",
"gene_hgnc_id": 12538,
"gene_symbol": "UGT1A6",
"hgvs_c": "c.1349C>T",
"hgvs_p": "p.Pro450Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001072.4",
"protein_coding": true,
"protein_id": "ENSP00000303174.6",
"strand": true,
"transcript": "ENST00000305139.11",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 530,
"aa_ref": "P",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2409,
"cdna_start": 1418,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_019075.4",
"gene_hgnc_id": 12531,
"gene_symbol": "UGT1A10",
"hgvs_c": "c.1343C>T",
"hgvs_p": "p.Pro448Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000344644.10",
"protein_coding": true,
"protein_id": "NP_061948.1",
"strand": true,
"transcript": "NM_019075.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 530,
"aa_ref": "P",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2409,
"cdna_start": 1418,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_019076.5",
"gene_hgnc_id": 12540,
"gene_symbol": "UGT1A8",
"hgvs_c": "c.1343C>T",
"hgvs_p": "p.Pro448Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373450.5",
"protein_coding": true,
"protein_id": "NP_061949.3",
"strand": true,
"transcript": "NM_019076.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 530,
"aa_ref": "P",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2371,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_019077.3",
"gene_hgnc_id": 12539,
"gene_symbol": "UGT1A7",
"hgvs_c": "c.1343C>T",
"hgvs_p": "p.Pro448Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373426.4",
"protein_coding": true,
"protein_id": "NP_061950.2",
"strand": true,
"transcript": "NM_019077.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 530,
"aa_ref": "P",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2371,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_021027.3",
"gene_hgnc_id": 12541,
"gene_symbol": "UGT1A9",
"hgvs_c": "c.1343C>T",
"hgvs_p": "p.Pro448Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000354728.5",
"protein_coding": true,
"protein_id": "NP_066307.1",
"strand": true,
"transcript": "NM_021027.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 530,
"aa_ref": "P",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2409,
"cdna_start": 1418,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000344644.10",
"gene_hgnc_id": 12531,
"gene_symbol": "UGT1A10",
"hgvs_c": "c.1343C>T",
"hgvs_p": "p.Pro448Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_019075.4",
"protein_coding": true,
"protein_id": "ENSP00000343838.5",
"strand": true,
"transcript": "ENST00000344644.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 530,
"aa_ref": "P",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2371,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000354728.5",
"gene_hgnc_id": 12541,
"gene_symbol": "UGT1A9",
"hgvs_c": "c.1343C>T",
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}