← Back to variant description
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: 11-78200231-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=78200231&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 78200231,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000529308.6",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP35",
"gene_hgnc_id": 20061,
"hgvs_c": "c.1035C>A",
"hgvs_p": "p.His345Gln",
"transcript": "NM_020798.4",
"protein_id": "NP_065849.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1035,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 4725,
"mane_select": "ENST00000529308.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP35",
"gene_hgnc_id": 20061,
"hgvs_c": "c.1035C>A",
"hgvs_p": "p.His345Gln",
"transcript": "ENST00000529308.6",
"protein_id": "ENSP00000431876.1",
"transcript_support_level": 5,
"aa_start": 345,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1035,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 4725,
"mane_select": "NM_020798.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP35",
"gene_hgnc_id": 20061,
"hgvs_c": "c.228C>A",
"hgvs_p": "p.His76Gln",
"transcript": "ENST00000526425.1",
"protein_id": "ENSP00000434942.1",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 749,
"cds_start": 228,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 3770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP35",
"gene_hgnc_id": 20061,
"hgvs_c": "c.303C>A",
"hgvs_p": "p.His101Gln",
"transcript": "ENST00000528910.5",
"protein_id": "ENSP00000436001.1",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 297,
"cds_start": 303,
"cds_end": null,
"cds_length": 895,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 1209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP35",
"gene_hgnc_id": 20061,
"hgvs_c": "n.*29C>A",
"hgvs_p": null,
"transcript": "ENST00000530546.5",
"protein_id": "ENSP00000436253.1",
"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": 2986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP35",
"gene_hgnc_id": 20061,
"hgvs_c": "n.*29C>A",
"hgvs_p": null,
"transcript": "ENST00000530546.5",
"protein_id": "ENSP00000436253.1",
"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": 2986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP35",
"gene_hgnc_id": 20061,
"hgvs_c": "c.1035C>A",
"hgvs_p": "p.His345Gln",
"transcript": "XM_047427332.1",
"protein_id": "XP_047283288.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1035,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 3604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP35",
"gene_hgnc_id": 20061,
"hgvs_c": "c.1035C>A",
"hgvs_p": "p.His345Gln",
"transcript": "XM_047427334.1",
"protein_id": "XP_047283290.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1035,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 5088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP35",
"gene_hgnc_id": 20061,
"hgvs_c": "c.1035C>A",
"hgvs_p": "p.His345Gln",
"transcript": "XM_047427335.1",
"protein_id": "XP_047283291.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1035,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 8204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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": "USP35",
"gene_hgnc_id": 20061,
"hgvs_c": "c.228C>A",
"hgvs_p": "p.His76Gln",
"transcript": "XM_011545187.3",
"protein_id": "XP_011543489.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 749,
"cds_start": 228,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 3761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"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": "USP35",
"gene_hgnc_id": 20061,
"hgvs_c": "c.228C>A",
"hgvs_p": "p.His76Gln",
"transcript": "XM_011545188.3",
"protein_id": "XP_011543490.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 749,
"cds_start": 228,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP35",
"gene_hgnc_id": 20061,
"hgvs_c": "n.1284C>A",
"hgvs_p": null,
"transcript": "XR_001747930.2",
"protein_id": null,
"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": 5377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP35",
"gene_hgnc_id": 20061,
"hgvs_c": "c.-99-5611C>A",
"hgvs_p": null,
"transcript": "ENST00000530267.5",
"protein_id": "ENSP00000435468.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": -4,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP35",
"gene_hgnc_id": 20061,
"hgvs_c": "n.336-9217C>A",
"hgvs_p": null,
"transcript": "ENST00000530535.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "USP35",
"gene_hgnc_id": 20061,
"dbsnp": "rs755648903",
"frequency_reference_population": 0.000009293358,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000957693,
"gnomad_genomes_af": 0.00000656987,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3337218463420868,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.28,
"revel_prediction": "Benign",
"alphamissense_score": 0.9776,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.327,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000529308.6",
"gene_symbol": "USP35",
"hgnc_id": 20061,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1035C>A",
"hgvs_p": "p.His345Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}