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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: 22-18160253-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=18160253&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 18160253,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017414.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP18",
"gene_hgnc_id": 12616,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Thr80Ile",
"transcript": "NM_017414.4",
"protein_id": "NP_059110.2",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 372,
"cds_start": 239,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000215794.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017414.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP18",
"gene_hgnc_id": 12616,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Thr80Ile",
"transcript": "ENST00000215794.8",
"protein_id": "ENSP00000215794.7",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 372,
"cds_start": 239,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017414.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000215794.8"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP18",
"gene_hgnc_id": 12616,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Thr88Ile",
"transcript": "ENST00000896324.1",
"protein_id": "ENSP00000566383.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 380,
"cds_start": 263,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896324.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP18",
"gene_hgnc_id": 12616,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Thr80Ile",
"transcript": "ENST00000896317.1",
"protein_id": "ENSP00000566376.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 372,
"cds_start": 239,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896317.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP18",
"gene_hgnc_id": 12616,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Thr80Ile",
"transcript": "ENST00000896318.1",
"protein_id": "ENSP00000566377.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 372,
"cds_start": 239,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896318.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP18",
"gene_hgnc_id": 12616,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Thr80Ile",
"transcript": "ENST00000896319.1",
"protein_id": "ENSP00000566378.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 372,
"cds_start": 239,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896319.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP18",
"gene_hgnc_id": 12616,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Thr80Ile",
"transcript": "ENST00000896320.1",
"protein_id": "ENSP00000566379.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 372,
"cds_start": 239,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896320.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP18",
"gene_hgnc_id": 12616,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Thr80Ile",
"transcript": "ENST00000896321.1",
"protein_id": "ENSP00000566380.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 372,
"cds_start": 239,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896321.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP18",
"gene_hgnc_id": 12616,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Thr80Ile",
"transcript": "ENST00000912382.1",
"protein_id": "ENSP00000582441.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 372,
"cds_start": 239,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912382.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP18",
"gene_hgnc_id": 12616,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Thr80Ile",
"transcript": "ENST00000949086.1",
"protein_id": "ENSP00000619145.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 371,
"cds_start": 239,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949086.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP18",
"gene_hgnc_id": 12616,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Thr80Ile",
"transcript": "ENST00000896322.1",
"protein_id": "ENSP00000566381.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 336,
"cds_start": 239,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896322.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP18",
"gene_hgnc_id": 12616,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Thr80Ile",
"transcript": "ENST00000896323.1",
"protein_id": "ENSP00000566382.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 328,
"cds_start": 239,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896323.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP18",
"gene_hgnc_id": 12616,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Thr80Ile",
"transcript": "ENST00000699060.2",
"protein_id": "ENSP00000514107.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 316,
"cds_start": 239,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699060.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP18",
"gene_hgnc_id": 12616,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Thr80Ile",
"transcript": "ENST00000896325.1",
"protein_id": "ENSP00000566384.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 284,
"cds_start": 239,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896325.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP18",
"gene_hgnc_id": 12616,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Thr80Ile",
"transcript": "ENST00000912381.1",
"protein_id": "ENSP00000582440.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 99,
"cds_start": 239,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912381.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP18",
"gene_hgnc_id": 12616,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Thr6Ile",
"transcript": "XM_006724074.4",
"protein_id": "XP_006724137.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 298,
"cds_start": 17,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724074.4"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP18",
"gene_hgnc_id": 12616,
"hgvs_c": "n.*113C>T",
"hgvs_p": null,
"transcript": "ENST00000715585.1",
"protein_id": "ENSP00000520484.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000715585.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP18",
"gene_hgnc_id": 12616,
"hgvs_c": "n.*113C>T",
"hgvs_p": null,
"transcript": "ENST00000715585.1",
"protein_id": "ENSP00000520484.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000715585.1"
}
],
"gene_symbol": "USP18",
"gene_hgnc_id": 12616,
"dbsnp": "rs200425361",
"frequency_reference_population": 0.000048943744,
"hom_count_reference_population": 0,
"allele_count_reference_population": 79,
"gnomad_exomes_af": 0.0000485706,
"gnomad_genomes_af": 0.0000525251,
"gnomad_exomes_ac": 71,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5088022947311401,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.126,
"revel_prediction": "Benign",
"alphamissense_score": 0.2209,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.841,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_017414.4",
"gene_symbol": "USP18",
"hgnc_id": 12616,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Thr80Ile"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}