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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: 4-69595226-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=69595226&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 69595226,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001389565.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"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": "UGT2A2",
"gene_hgnc_id": 28183,
"hgvs_c": "c.1047G>T",
"hgvs_p": "p.Lys349Asn",
"transcript": "NM_001105677.2",
"protein_id": "NP_001099147.2",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 536,
"cds_start": 1047,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000604629.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105677.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"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": "UGT2A2",
"gene_hgnc_id": 28183,
"hgvs_c": "c.1047G>T",
"hgvs_p": "p.Lys349Asn",
"transcript": "ENST00000604629.6",
"protein_id": "ENSP00000475028.2",
"transcript_support_level": 1,
"aa_start": 349,
"aa_end": null,
"aa_length": 536,
"cds_start": 1047,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001105677.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604629.6"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT2A1",
"gene_hgnc_id": 12542,
"hgvs_c": "c.1020G>T",
"hgvs_p": "p.Lys340Asn",
"transcript": "NM_001252275.3",
"protein_id": "NP_001239204.2",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 527,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000286604.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252275.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT2A1",
"gene_hgnc_id": 12542,
"hgvs_c": "c.1020G>T",
"hgvs_p": "p.Lys340Asn",
"transcript": "ENST00000286604.9",
"protein_id": "ENSP00000286604.4",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 527,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001252275.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286604.9"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "UGT2A1",
"gene_hgnc_id": 12542,
"hgvs_c": "c.1020G>T",
"hgvs_p": "p.Lys340Asn",
"transcript": "ENST00000503640.5",
"protein_id": "ENSP00000424478.1",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 527,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503640.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "UGT2A2",
"gene_hgnc_id": 28183,
"hgvs_c": "c.915G>T",
"hgvs_p": "p.Lys305Asn",
"transcript": "ENST00000604021.1",
"protein_id": "ENSP00000474383.2",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 492,
"cds_start": 915,
"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": "ENST00000604021.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "UGT2A1",
"gene_hgnc_id": 12542,
"hgvs_c": "c.888G>T",
"hgvs_p": "p.Lys296Asn",
"transcript": "ENST00000512704.5",
"protein_id": "ENSP00000421432.1",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 483,
"cds_start": 888,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512704.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT2A1",
"gene_hgnc_id": 12542,
"hgvs_c": "c.1650G>T",
"hgvs_p": "p.Lys550Asn",
"transcript": "NM_001389565.1",
"protein_id": "NP_001376494.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 737,
"cds_start": 1650,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389565.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT2A1",
"gene_hgnc_id": 12542,
"hgvs_c": "c.1518G>T",
"hgvs_p": "p.Lys506Asn",
"transcript": "NM_001252274.3",
"protein_id": "NP_001239203.2",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 693,
"cds_start": 1518,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252274.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT2A1",
"gene_hgnc_id": 12542,
"hgvs_c": "c.1518G>T",
"hgvs_p": "p.Lys506Asn",
"transcript": "ENST00000514019.1",
"protein_id": "ENSP00000425497.1",
"transcript_support_level": 2,
"aa_start": 506,
"aa_end": null,
"aa_length": 693,
"cds_start": 1518,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514019.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT2A1",
"gene_hgnc_id": 12542,
"hgvs_c": "c.1020G>T",
"hgvs_p": "p.Lys340Asn",
"transcript": "NM_006798.5",
"protein_id": "NP_006789.3",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 527,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006798.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "UGT2A2",
"gene_hgnc_id": 28183,
"hgvs_c": "c.915G>T",
"hgvs_p": "p.Lys305Asn",
"transcript": "NM_001301233.1",
"protein_id": "NP_001288162.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 492,
"cds_start": 915,
"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": "NM_001301233.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"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": "UGT2A1",
"gene_hgnc_id": 12542,
"hgvs_c": "c.888G>T",
"hgvs_p": "p.Lys296Asn",
"transcript": "NM_001301239.2",
"protein_id": "NP_001288168.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 483,
"cds_start": 888,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301239.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT2A1",
"gene_hgnc_id": 12542,
"hgvs_c": "n.245G>T",
"hgvs_p": null,
"transcript": "ENST00000502343.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000502343.1"
}
],
"gene_symbol": "UGT2A1",
"gene_hgnc_id": 12542,
"dbsnp": "rs146912371",
"frequency_reference_population": 0.0038209993,
"hom_count_reference_population": 14,
"allele_count_reference_population": 6166,
"gnomad_exomes_af": 0.00396037,
"gnomad_genomes_af": 0.00248299,
"gnomad_exomes_ac": 5788,
"gnomad_genomes_ac": 378,
"gnomad_exomes_homalt": 14,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004184156656265259,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.044,
"revel_prediction": "Benign",
"alphamissense_score": 0.1648,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.196,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001389565.1",
"gene_symbol": "UGT2A1",
"hgnc_id": 12542,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1650G>T",
"hgvs_p": "p.Lys550Asn"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001105677.2",
"gene_symbol": "UGT2A2",
"hgnc_id": 28183,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1047G>T",
"hgvs_p": "p.Lys349Asn"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}