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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: 18-74123392-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=74123392&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 74123392,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000419743.7",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO15",
"gene_hgnc_id": 13617,
"hgvs_c": "c.1114T>C",
"hgvs_p": "p.Phe372Leu",
"transcript": "NM_001142958.2",
"protein_id": "NP_001136430.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 510,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 1675,
"mane_select": "ENST00000419743.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO15",
"gene_hgnc_id": 13617,
"hgvs_c": "c.1114T>C",
"hgvs_p": "p.Phe372Leu",
"transcript": "ENST00000419743.7",
"protein_id": "ENSP00000393154.2",
"transcript_support_level": 2,
"aa_start": 372,
"aa_end": null,
"aa_length": 510,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 1675,
"mane_select": "NM_001142958.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO15",
"gene_hgnc_id": 13617,
"hgvs_c": "n.*1123T>C",
"hgvs_p": null,
"transcript": "ENST00000583443.5",
"protein_id": "ENSP00000464177.1",
"transcript_support_level": 1,
"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": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO15",
"gene_hgnc_id": 13617,
"hgvs_c": "n.*1123T>C",
"hgvs_p": null,
"transcript": "ENST00000583443.5",
"protein_id": "ENSP00000464177.1",
"transcript_support_level": 1,
"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": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO15",
"gene_hgnc_id": 13617,
"hgvs_c": "c.886T>C",
"hgvs_p": "p.Phe296Leu",
"transcript": "NM_152676.3",
"protein_id": "NP_689889.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 434,
"cds_start": 886,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 1804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO15",
"gene_hgnc_id": 13617,
"hgvs_c": "c.328T>C",
"hgvs_p": "p.Phe110Leu",
"transcript": "ENST00000579517.2",
"protein_id": "ENSP00000463247.2",
"transcript_support_level": 3,
"aa_start": 110,
"aa_end": null,
"aa_length": 121,
"cds_start": 328,
"cds_end": null,
"cds_length": 366,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 1129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO15",
"gene_hgnc_id": 13617,
"hgvs_c": "c.118T>C",
"hgvs_p": "p.Phe40Leu",
"transcript": "ENST00000580088.1",
"protein_id": "ENSP00000462117.1",
"transcript_support_level": 5,
"aa_start": 40,
"aa_end": null,
"aa_length": 101,
"cds_start": 118,
"cds_end": null,
"cds_length": 306,
"cdna_start": 119,
"cdna_end": null,
"cdna_length": 493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO15",
"gene_hgnc_id": 13617,
"hgvs_c": "c.904T>C",
"hgvs_p": "p.Phe302Leu",
"transcript": "XM_011525856.2",
"protein_id": "XP_011524158.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 440,
"cds_start": 904,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 1465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO15",
"gene_hgnc_id": 13617,
"hgvs_c": "c.1114T>C",
"hgvs_p": "p.Phe372Leu",
"transcript": "XM_024451099.2",
"protein_id": "XP_024306867.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 439,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 1615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO15",
"gene_hgnc_id": 13617,
"hgvs_c": "c.886T>C",
"hgvs_p": "p.Phe296Leu",
"transcript": "XM_017025604.3",
"protein_id": "XP_016881093.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 434,
"cds_start": 886,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 7938,
"cdna_end": null,
"cdna_length": 8450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO15",
"gene_hgnc_id": 13617,
"hgvs_c": "c.886T>C",
"hgvs_p": "p.Phe296Leu",
"transcript": "XM_047437341.1",
"protein_id": "XP_047293297.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 434,
"cds_start": 886,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 8099,
"cdna_end": null,
"cdna_length": 8611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO15",
"gene_hgnc_id": 13617,
"hgvs_c": "c.886T>C",
"hgvs_p": "p.Phe296Leu",
"transcript": "XM_047437342.1",
"protein_id": "XP_047293298.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 434,
"cds_start": 886,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 2139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO15",
"gene_hgnc_id": 13617,
"hgvs_c": "n.*291T>C",
"hgvs_p": null,
"transcript": "ENST00000578399.5",
"protein_id": "ENSP00000462151.1",
"transcript_support_level": 3,
"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": 827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO15",
"gene_hgnc_id": 13617,
"hgvs_c": "n.*1031T>C",
"hgvs_p": null,
"transcript": "ENST00000581214.5",
"protein_id": "ENSP00000462143.1",
"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": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO15",
"gene_hgnc_id": 13617,
"hgvs_c": "n.*1050T>C",
"hgvs_p": null,
"transcript": "ENST00000648529.1",
"protein_id": "ENSP00000496898.1",
"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": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO15",
"gene_hgnc_id": 13617,
"hgvs_c": "n.*291T>C",
"hgvs_p": null,
"transcript": "ENST00000578399.5",
"protein_id": "ENSP00000462151.1",
"transcript_support_level": 3,
"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": 827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO15",
"gene_hgnc_id": 13617,
"hgvs_c": "n.*1031T>C",
"hgvs_p": null,
"transcript": "ENST00000581214.5",
"protein_id": "ENSP00000462143.1",
"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": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO15",
"gene_hgnc_id": 13617,
"hgvs_c": "n.*1050T>C",
"hgvs_p": null,
"transcript": "ENST00000648529.1",
"protein_id": "ENSP00000496898.1",
"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": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "FBXO15",
"gene_hgnc_id": 13617,
"hgvs_c": "c.785+6013T>C",
"hgvs_p": null,
"transcript": "XM_011525860.1",
"protein_id": "XP_011524162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 264,
"cds_start": -4,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FBXO15",
"gene_hgnc_id": 13617,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5808205008506775,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.256,
"revel_prediction": "Benign",
"alphamissense_score": 0.9641,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.323,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000419743.7",
"gene_symbol": "FBXO15",
"hgnc_id": 13617,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1114T>C",
"hgvs_p": "p.Phe372Leu"
}
],
"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
}