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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: 4-69098620-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=69098620&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 69098620,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000305231.12",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT2B7",
"gene_hgnc_id": 12554,
"hgvs_c": "c.802T>C",
"hgvs_p": "p.Tyr268His",
"transcript": "NM_001074.4",
"protein_id": "NP_001065.2",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 529,
"cds_start": 802,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": "ENST00000305231.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT2B7",
"gene_hgnc_id": 12554,
"hgvs_c": "c.802T>C",
"hgvs_p": "p.Tyr268His",
"transcript": "ENST00000305231.12",
"protein_id": "ENSP00000304811.7",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 529,
"cds_start": 802,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": "NM_001074.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT2B7",
"gene_hgnc_id": 12554,
"hgvs_c": "c.802T>C",
"hgvs_p": "p.Tyr268His",
"transcript": "NM_001330719.2",
"protein_id": "NP_001317648.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 369,
"cds_start": 802,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT2B7",
"gene_hgnc_id": 12554,
"hgvs_c": "c.802T>C",
"hgvs_p": "p.Tyr268His",
"transcript": "ENST00000508661.5",
"protein_id": "ENSP00000427659.1",
"transcript_support_level": 2,
"aa_start": 268,
"aa_end": null,
"aa_length": 369,
"cds_start": 802,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 1633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT2B7",
"gene_hgnc_id": 12554,
"hgvs_c": "c.802T>C",
"hgvs_p": "p.Tyr268His",
"transcript": "ENST00000622664.1",
"protein_id": "ENSP00000483172.1",
"transcript_support_level": 5,
"aa_start": 268,
"aa_end": null,
"aa_length": 335,
"cds_start": 802,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT2B7",
"gene_hgnc_id": 12554,
"hgvs_c": "c.55T>C",
"hgvs_p": "p.Tyr19His",
"transcript": "NM_001349568.2",
"protein_id": "NP_001336497.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 280,
"cds_start": 55,
"cds_end": null,
"cds_length": 843,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 1480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT2B7",
"gene_hgnc_id": 12554,
"hgvs_c": "c.55T>C",
"hgvs_p": "p.Tyr19His",
"transcript": "ENST00000502942.5",
"protein_id": "ENSP00000426206.1",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 155,
"cds_start": 55,
"cds_end": null,
"cds_length": 468,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT2B7",
"gene_hgnc_id": 12554,
"hgvs_c": "n.340T>C",
"hgvs_p": null,
"transcript": "ENST00000509763.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 744,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000299782",
"gene_hgnc_id": 58802,
"hgvs_c": "n.442+1503A>G",
"hgvs_p": null,
"transcript": "ENST00000766360.1",
"protein_id": null,
"transcript_support_level": null,
"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": 774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UGT2B7",
"gene_hgnc_id": 12554,
"dbsnp": "rs7439366",
"frequency_reference_population": 0.5014382,
"hom_count_reference_population": 209146,
"allele_count_reference_population": 807479,
"gnomad_exomes_af": 0.493758,
"gnomad_genomes_af": 0.575607,
"gnomad_exomes_ac": 720506,
"gnomad_genomes_ac": 86973,
"gnomad_exomes_homalt": 183153,
"gnomad_genomes_homalt": 25993,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000009891769877867773,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.066,
"revel_prediction": "Benign",
"alphamissense_score": 0.1242,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.008,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000305231.12",
"gene_symbol": "UGT2B7",
"hgnc_id": 12554,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.802T>C",
"hgvs_p": "p.Tyr268His"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000766360.1",
"gene_symbol": "ENSG00000299782",
"hgnc_id": 58802,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.442+1503A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Tramadol response",
"clinvar_classification": "drug response",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Tramadol response",
"pathogenicity_classification_combined": "drug response",
"custom_annotations": null
}
],
"message": null
}