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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: 17-60180613-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=60180613&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 60180613,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000300896.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP32",
"gene_hgnc_id": 19143,
"hgvs_c": "c.4573G>A",
"hgvs_p": "p.Gly1525Ser",
"transcript": "NM_032582.4",
"protein_id": "NP_115971.2",
"transcript_support_level": null,
"aa_start": 1525,
"aa_end": null,
"aa_length": 1604,
"cds_start": 4573,
"cds_end": null,
"cds_length": 4815,
"cdna_start": 4767,
"cdna_end": null,
"cdna_length": 6937,
"mane_select": "ENST00000300896.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP32",
"gene_hgnc_id": 19143,
"hgvs_c": "c.4573G>A",
"hgvs_p": "p.Gly1525Ser",
"transcript": "ENST00000300896.9",
"protein_id": "ENSP00000300896.3",
"transcript_support_level": 1,
"aa_start": 1525,
"aa_end": null,
"aa_length": 1604,
"cds_start": 4573,
"cds_end": null,
"cds_length": 4815,
"cdna_start": 4767,
"cdna_end": null,
"cdna_length": 6937,
"mane_select": "NM_032582.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP32",
"gene_hgnc_id": 19143,
"hgvs_c": "c.3583G>A",
"hgvs_p": "p.Gly1195Ser",
"transcript": "ENST00000592339.5",
"protein_id": "ENSP00000467885.1",
"transcript_support_level": 1,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1274,
"cds_start": 3583,
"cds_end": null,
"cds_length": 3825,
"cdna_start": 3653,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP32",
"gene_hgnc_id": 19143,
"hgvs_c": "c.4663G>A",
"hgvs_p": "p.Gly1555Ser",
"transcript": "XM_011525371.2",
"protein_id": "XP_011523673.1",
"transcript_support_level": null,
"aa_start": 1555,
"aa_end": null,
"aa_length": 1634,
"cds_start": 4663,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 4728,
"cdna_end": null,
"cdna_length": 6898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP32",
"gene_hgnc_id": 19143,
"hgvs_c": "c.4621G>A",
"hgvs_p": "p.Gly1541Ser",
"transcript": "XM_011525372.2",
"protein_id": "XP_011523674.1",
"transcript_support_level": null,
"aa_start": 1541,
"aa_end": null,
"aa_length": 1620,
"cds_start": 4621,
"cds_end": null,
"cds_length": 4863,
"cdna_start": 4686,
"cdna_end": null,
"cdna_length": 6856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP32",
"gene_hgnc_id": 19143,
"hgvs_c": "c.4615G>A",
"hgvs_p": "p.Gly1539Ser",
"transcript": "XM_011525373.2",
"protein_id": "XP_011523675.1",
"transcript_support_level": null,
"aa_start": 1539,
"aa_end": null,
"aa_length": 1618,
"cds_start": 4615,
"cds_end": null,
"cds_length": 4857,
"cdna_start": 4809,
"cdna_end": null,
"cdna_length": 6979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP32",
"gene_hgnc_id": 19143,
"hgvs_c": "c.4606G>A",
"hgvs_p": "p.Gly1536Ser",
"transcript": "XM_011525374.2",
"protein_id": "XP_011523676.1",
"transcript_support_level": null,
"aa_start": 1536,
"aa_end": null,
"aa_length": 1615,
"cds_start": 4606,
"cds_end": null,
"cds_length": 4848,
"cdna_start": 4656,
"cdna_end": null,
"cdna_length": 6826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP32",
"gene_hgnc_id": 19143,
"hgvs_c": "c.4585G>A",
"hgvs_p": "p.Gly1529Ser",
"transcript": "XM_011525375.2",
"protein_id": "XP_011523677.1",
"transcript_support_level": null,
"aa_start": 1529,
"aa_end": null,
"aa_length": 1608,
"cds_start": 4585,
"cds_end": null,
"cds_length": 4827,
"cdna_start": 19091,
"cdna_end": null,
"cdna_length": 21261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP32",
"gene_hgnc_id": 19143,
"hgvs_c": "c.4564G>A",
"hgvs_p": "p.Gly1522Ser",
"transcript": "XM_011525376.2",
"protein_id": "XP_011523678.1",
"transcript_support_level": null,
"aa_start": 1522,
"aa_end": null,
"aa_length": 1601,
"cds_start": 4564,
"cds_end": null,
"cds_length": 4806,
"cdna_start": 4643,
"cdna_end": null,
"cdna_length": 6813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP32",
"gene_hgnc_id": 19143,
"hgvs_c": "c.4543G>A",
"hgvs_p": "p.Gly1515Ser",
"transcript": "XM_047436943.1",
"protein_id": "XP_047292899.1",
"transcript_support_level": null,
"aa_start": 1515,
"aa_end": null,
"aa_length": 1594,
"cds_start": 4543,
"cds_end": null,
"cds_length": 4785,
"cdna_start": 19046,
"cdna_end": null,
"cdna_length": 21216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP32",
"gene_hgnc_id": 19143,
"hgvs_c": "c.4477G>A",
"hgvs_p": "p.Gly1493Ser",
"transcript": "XM_011525378.2",
"protein_id": "XP_011523680.1",
"transcript_support_level": null,
"aa_start": 1493,
"aa_end": null,
"aa_length": 1572,
"cds_start": 4477,
"cds_end": null,
"cds_length": 4719,
"cdna_start": 4787,
"cdna_end": null,
"cdna_length": 6957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP32",
"gene_hgnc_id": 19143,
"hgvs_c": "c.4435G>A",
"hgvs_p": "p.Gly1479Ser",
"transcript": "XM_017025233.2",
"protein_id": "XP_016880722.1",
"transcript_support_level": null,
"aa_start": 1479,
"aa_end": null,
"aa_length": 1558,
"cds_start": 4435,
"cds_end": null,
"cds_length": 4677,
"cdna_start": 4745,
"cdna_end": null,
"cdna_length": 6915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP32",
"gene_hgnc_id": 19143,
"hgvs_c": "c.4270G>A",
"hgvs_p": "p.Gly1424Ser",
"transcript": "XM_047436944.1",
"protein_id": "XP_047292900.1",
"transcript_support_level": null,
"aa_start": 1424,
"aa_end": null,
"aa_length": 1503,
"cds_start": 4270,
"cds_end": null,
"cds_length": 4512,
"cdna_start": 4505,
"cdna_end": null,
"cdna_length": 6675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP32",
"gene_hgnc_id": 19143,
"hgvs_c": "c.3742G>A",
"hgvs_p": "p.Gly1248Ser",
"transcript": "XM_011525379.4",
"protein_id": "XP_011523681.1",
"transcript_support_level": null,
"aa_start": 1248,
"aa_end": null,
"aa_length": 1327,
"cds_start": 3742,
"cds_end": null,
"cds_length": 3984,
"cdna_start": 4113,
"cdna_end": null,
"cdna_length": 6283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP32",
"gene_hgnc_id": 19143,
"hgvs_c": "c.3658G>A",
"hgvs_p": "p.Gly1220Ser",
"transcript": "XM_047436945.1",
"protein_id": "XP_047292901.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3658,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3667,
"cdna_end": null,
"cdna_length": 5837,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP32",
"gene_hgnc_id": 19143,
"hgvs_c": "c.348+711G>A",
"hgvs_p": null,
"transcript": "ENST00000593071.1",
"protein_id": "ENSP00000466740.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": -4,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "USP32",
"gene_hgnc_id": 19143,
"dbsnp": null,
"frequency_reference_population": 6.842407e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84241e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9847971200942993,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.893,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9882,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.87,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000300896.9",
"gene_symbol": "USP32",
"hgnc_id": 19143,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4573G>A",
"hgvs_p": "p.Gly1525Ser"
}
],
"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
}