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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: 5-35955748-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=35955748&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 35955748,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152404.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.1192A>G",
"hgvs_p": "p.Met398Val",
"transcript": "NM_152404.4",
"protein_id": "NP_689617.3",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 523,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 4918,
"mane_select": "ENST00000274278.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152404.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.1192A>G",
"hgvs_p": "p.Met398Val",
"transcript": "ENST00000274278.8",
"protein_id": "ENSP00000274278.3",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 523,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 4918,
"mane_select": "NM_152404.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274278.8"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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.1090A>G",
"hgvs_p": "p.Met364Val",
"transcript": "ENST00000876682.1",
"protein_id": "ENSP00000546741.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 489,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 2758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876682.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.1192A>G",
"hgvs_p": "p.Met398Val",
"transcript": "ENST00000503189.5",
"protein_id": "ENSP00000427079.1",
"transcript_support_level": 2,
"aa_start": 398,
"aa_end": null,
"aa_length": 436,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 1902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503189.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.1090A>G",
"hgvs_p": "p.Met364Val",
"transcript": "ENST00000507113.5",
"protein_id": "ENSP00000426100.1",
"transcript_support_level": 2,
"aa_start": 364,
"aa_end": null,
"aa_length": 402,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507113.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Met105Val",
"transcript": "ENST00000876683.1",
"protein_id": "ENSP00000546742.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 230,
"cds_start": 313,
"cds_end": null,
"cds_length": 693,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 1966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876683.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.1201A>G",
"hgvs_p": "p.Met401Val",
"transcript": "XM_047416707.1",
"protein_id": "XP_047272663.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 526,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 4815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416707.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.1099A>G",
"hgvs_p": "p.Met367Val",
"transcript": "XM_011513957.3",
"protein_id": "XP_011512259.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 492,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 4713,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513957.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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.1090A>G",
"hgvs_p": "p.Met364Val",
"transcript": "XM_011513958.3",
"protein_id": "XP_011512260.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 489,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 4816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513958.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.1030A>G",
"hgvs_p": "p.Met344Val",
"transcript": "XM_005248243.5",
"protein_id": "XP_005248300.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 469,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 4850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248243.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.1030A>G",
"hgvs_p": "p.Met344Val",
"transcript": "XM_011513959.3",
"protein_id": "XP_011512261.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 469,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 4820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513959.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "c.1030A>G",
"hgvs_p": "p.Met344Val",
"transcript": "XM_047416708.1",
"protein_id": "XP_047272664.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 469,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 4780,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416708.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"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.853A>G",
"hgvs_p": "p.Met285Val",
"transcript": "XM_047416709.1",
"protein_id": "XP_047272665.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 410,
"cds_start": 853,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 4627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416709.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "n.537A>G",
"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": 556,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000513233.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "n.*2163A>G",
"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": 5002,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"hgvs_c": "n.*2163A>G",
"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": 5002,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000515801.5"
}
],
"gene_symbol": "UGT3A1",
"gene_hgnc_id": 26625,
"dbsnp": "rs191737460",
"frequency_reference_population": 0.000042125714,
"hom_count_reference_population": 0,
"allele_count_reference_population": 68,
"gnomad_exomes_af": 0.0000212054,
"gnomad_genomes_af": 0.000242906,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 37,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02294829487800598,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.029,
"revel_prediction": "Benign",
"alphamissense_score": 0.1487,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.192,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_152404.4",
"gene_symbol": "UGT3A1",
"hgnc_id": 26625,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1192A>G",
"hgvs_p": "p.Met398Val"
}
],
"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
}