← 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: X-41137008-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=41137008&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 41137008,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000378308.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP9X",
"gene_hgnc_id": 12632,
"hgvs_c": "c.640C>G",
"hgvs_p": "p.Pro214Ala",
"transcript": "NM_001039591.3",
"protein_id": "NP_001034680.2",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 2554,
"cds_start": 640,
"cds_end": null,
"cds_length": 7665,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 12543,
"mane_select": "ENST00000378308.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP9X",
"gene_hgnc_id": 12632,
"hgvs_c": "c.640C>G",
"hgvs_p": "p.Pro214Ala",
"transcript": "ENST00000378308.7",
"protein_id": "ENSP00000367558.2",
"transcript_support_level": 5,
"aa_start": 214,
"aa_end": null,
"aa_length": 2554,
"cds_start": 640,
"cds_end": null,
"cds_length": 7665,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 12543,
"mane_select": "NM_001039591.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP9X",
"gene_hgnc_id": 12632,
"hgvs_c": "c.640C>G",
"hgvs_p": "p.Pro214Ala",
"transcript": "NM_001410748.1",
"protein_id": "NP_001397677.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 2575,
"cds_start": 640,
"cds_end": null,
"cds_length": 7728,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 12655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP9X",
"gene_hgnc_id": 12632,
"hgvs_c": "c.640C>G",
"hgvs_p": "p.Pro214Ala",
"transcript": "ENST00000703987.1",
"protein_id": "ENSP00000515604.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 2575,
"cds_start": 640,
"cds_end": null,
"cds_length": 7728,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 8383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP9X",
"gene_hgnc_id": 12632,
"hgvs_c": "c.640C>G",
"hgvs_p": "p.Pro214Ala",
"transcript": "NM_001039590.3",
"protein_id": "NP_001034679.2",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 2570,
"cds_start": 640,
"cds_end": null,
"cds_length": 7713,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 12591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP9X",
"gene_hgnc_id": 12632,
"hgvs_c": "c.640C>G",
"hgvs_p": "p.Pro214Ala",
"transcript": "ENST00000324545.9",
"protein_id": "ENSP00000316357.6",
"transcript_support_level": 5,
"aa_start": 214,
"aa_end": null,
"aa_length": 2570,
"cds_start": 640,
"cds_end": null,
"cds_length": 7713,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 12591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP9X",
"gene_hgnc_id": 12632,
"hgvs_c": "c.640C>G",
"hgvs_p": "p.Pro214Ala",
"transcript": "NM_001410749.1",
"protein_id": "NP_001397678.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 2559,
"cds_start": 640,
"cds_end": null,
"cds_length": 7680,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 12607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP9X",
"gene_hgnc_id": 12632,
"hgvs_c": "c.640C>G",
"hgvs_p": "p.Pro214Ala",
"transcript": "NM_001437534.1",
"protein_id": "NP_001424463.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 2559,
"cds_start": 640,
"cds_end": null,
"cds_length": 7680,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 12558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP9X",
"gene_hgnc_id": 12632,
"hgvs_c": "c.640C>G",
"hgvs_p": "p.Pro214Ala",
"transcript": "ENST00000703986.1",
"protein_id": "ENSP00000515603.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 2559,
"cds_start": 640,
"cds_end": null,
"cds_length": 7680,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 12490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP9X",
"gene_hgnc_id": 12632,
"hgvs_c": "c.640C>G",
"hgvs_p": "p.Pro214Ala",
"transcript": "ENST00000704650.1",
"protein_id": "ENSP00000515975.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 2554,
"cds_start": 640,
"cds_end": null,
"cds_length": 7665,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 9555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP9X",
"gene_hgnc_id": 12632,
"hgvs_c": "c.640C>G",
"hgvs_p": "p.Pro214Ala",
"transcript": "ENST00000704651.1",
"protein_id": "ENSP00000515976.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 2503,
"cds_start": 640,
"cds_end": null,
"cds_length": 7512,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 9282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP9X",
"gene_hgnc_id": 12632,
"hgvs_c": "c.640C>G",
"hgvs_p": "p.Pro214Ala",
"transcript": "ENST00000704649.1",
"protein_id": "ENSP00000515974.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 1273,
"cds_start": 640,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 8700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP9X",
"gene_hgnc_id": 12632,
"hgvs_c": "c.640C>G",
"hgvs_p": "p.Pro214Ala",
"transcript": "XM_005272675.5",
"protein_id": "XP_005272732.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 2575,
"cds_start": 640,
"cds_end": null,
"cds_length": 7728,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 12606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP9X",
"gene_hgnc_id": 12632,
"hgvs_c": "c.640C>G",
"hgvs_p": "p.Pro214Ala",
"transcript": "XM_047442548.1",
"protein_id": "XP_047298504.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 2570,
"cds_start": 640,
"cds_end": null,
"cds_length": 7713,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 12640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP9X",
"gene_hgnc_id": 12632,
"hgvs_c": "c.640C>G",
"hgvs_p": "p.Pro214Ala",
"transcript": "XM_047442550.1",
"protein_id": "XP_047298506.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 2554,
"cds_start": 640,
"cds_end": null,
"cds_length": 7665,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 12592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "USP9X",
"gene_hgnc_id": 12632,
"dbsnp": "rs878853105",
"frequency_reference_population": 0.000012410962,
"hom_count_reference_population": 4,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.0000127678,
"gnomad_genomes_af": 0.00000892053,
"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": 0.3715137839317322,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.226,
"revel_prediction": "Benign",
"alphamissense_score": 0.0765,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.565,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000378308.7",
"gene_symbol": "USP9X",
"hgnc_id": 12632,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.640C>G",
"hgvs_p": "p.Pro214Ala"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}