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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: 13-30657641-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=30657641&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 30657641,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000255304.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USPL1",
"gene_hgnc_id": 20294,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Ala522Thr",
"transcript": "NM_005800.5",
"protein_id": "NP_005791.3",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 1092,
"cds_start": 1564,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 1769,
"cdna_end": null,
"cdna_length": 4894,
"mane_select": "ENST00000255304.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USPL1",
"gene_hgnc_id": 20294,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Ala522Thr",
"transcript": "ENST00000255304.9",
"protein_id": "ENSP00000255304.4",
"transcript_support_level": 1,
"aa_start": 522,
"aa_end": null,
"aa_length": 1092,
"cds_start": 1564,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 1769,
"cdna_end": null,
"cdna_length": 4894,
"mane_select": "NM_005800.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USPL1",
"gene_hgnc_id": 20294,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"transcript": "ENST00000614860.1",
"protein_id": "ENSP00000480656.1",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 763,
"cds_start": 577,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 4074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USPL1",
"gene_hgnc_id": 20294,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Ala341Thr",
"transcript": "NM_001321532.2",
"protein_id": "NP_001308461.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 911,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 4727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USPL1",
"gene_hgnc_id": 20294,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"transcript": "NM_001321533.2",
"protein_id": "NP_001308462.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 763,
"cds_start": 577,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 4087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USPL1",
"gene_hgnc_id": 20294,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Ala193Thr",
"transcript": "NM_001321534.2",
"protein_id": "NP_001308463.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 763,
"cds_start": 577,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USPL1",
"gene_hgnc_id": 20294,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Ala522Thr",
"transcript": "XM_047430027.1",
"protein_id": "XP_047285983.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 1092,
"cds_start": 1564,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 3453,
"cdna_end": null,
"cdna_length": 6578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USPL1",
"gene_hgnc_id": 20294,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Ala522Thr",
"transcript": "XM_047430028.1",
"protein_id": "XP_047285984.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 1092,
"cds_start": 1564,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 1831,
"cdna_end": null,
"cdna_length": 4956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USPL1",
"gene_hgnc_id": 20294,
"hgvs_c": "c.1546G>A",
"hgvs_p": "p.Ala516Thr",
"transcript": "XM_006719751.5",
"protein_id": "XP_006719814.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1546,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 1751,
"cdna_end": null,
"cdna_length": 4876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USPL1",
"gene_hgnc_id": 20294,
"hgvs_c": "c.1546G>A",
"hgvs_p": "p.Ala516Thr",
"transcript": "XM_047430029.1",
"protein_id": "XP_047285985.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 1086,
"cds_start": 1546,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 2486,
"cdna_end": null,
"cdna_length": 5611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USPL1",
"gene_hgnc_id": 20294,
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Ala484Thr",
"transcript": "XM_017020314.3",
"protein_id": "XP_016875803.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 1054,
"cds_start": 1450,
"cds_end": null,
"cds_length": 3165,
"cdna_start": 1655,
"cdna_end": null,
"cdna_length": 4780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USPL1",
"gene_hgnc_id": 20294,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Ala341Thr",
"transcript": "XM_047430030.1",
"protein_id": "XP_047285986.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 911,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2337,
"cdna_end": null,
"cdna_length": 5462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USPL1",
"gene_hgnc_id": 20294,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Ala341Thr",
"transcript": "XM_047430031.1",
"protein_id": "XP_047285987.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 911,
"cds_start": 1021,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 4789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USPL1",
"gene_hgnc_id": 20294,
"hgvs_c": "c.907G>A",
"hgvs_p": "p.Ala303Thr",
"transcript": "XM_017020315.2",
"protein_id": "XP_016875804.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 873,
"cds_start": 907,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 4613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USPL1",
"gene_hgnc_id": 20294,
"hgvs_c": "c.*149G>A",
"hgvs_p": null,
"transcript": "XM_047430032.1",
"protein_id": "XP_047285988.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 237,
"cds_start": -4,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "USPL1",
"gene_hgnc_id": 20294,
"dbsnp": "rs17609459",
"frequency_reference_population": 0.000075581105,
"hom_count_reference_population": 0,
"allele_count_reference_population": 122,
"gnomad_exomes_af": 0.0000820868,
"gnomad_genomes_af": 0.0000131327,
"gnomad_exomes_ac": 120,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02951788902282715,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.071,
"revel_prediction": "Benign",
"alphamissense_score": 0.0721,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.08,
"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": "ENST00000255304.9",
"gene_symbol": "USPL1",
"hgnc_id": 20294,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Ala522Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}