← 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-10213862-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=10213862&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 10213862,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000380833.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "c.1758G>A",
"hgvs_p": "p.Val586Val",
"transcript": "NM_001830.4",
"protein_id": "NP_001821.2",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 760,
"cds_start": 1758,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 6759,
"mane_select": "ENST00000380833.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "c.1758G>A",
"hgvs_p": "p.Val586Val",
"transcript": "ENST00000380833.9",
"protein_id": "ENSP00000370213.4",
"transcript_support_level": 1,
"aa_start": 586,
"aa_end": null,
"aa_length": 760,
"cds_start": 1758,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 6759,
"mane_select": "NM_001830.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "c.1782G>A",
"hgvs_p": "p.Val594Val",
"transcript": "ENST00000421085.7",
"protein_id": "ENSP00000405754.3",
"transcript_support_level": 5,
"aa_start": 594,
"aa_end": null,
"aa_length": 768,
"cds_start": 1782,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1867,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "c.1665G>A",
"hgvs_p": "p.Val555Val",
"transcript": "ENST00000380829.5",
"protein_id": "ENSP00000370209.1",
"transcript_support_level": 5,
"aa_start": 555,
"aa_end": null,
"aa_length": 729,
"cds_start": 1665,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1780,
"cdna_end": null,
"cdna_length": 2418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "c.1476G>A",
"hgvs_p": "p.Val492Val",
"transcript": "NM_001256944.2",
"protein_id": "NP_001243873.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 666,
"cds_start": 1476,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 6504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "c.1476G>A",
"hgvs_p": "p.Val492Val",
"transcript": "ENST00000674669.1",
"protein_id": "ENSP00000501922.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 666,
"cds_start": 1476,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 2227,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "n.*1532G>A",
"hgvs_p": null,
"transcript": "ENST00000675144.1",
"protein_id": "ENSP00000501600.1",
"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": 3485,
"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": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "n.1758G>A",
"hgvs_p": null,
"transcript": "ENST00000675769.1",
"protein_id": "ENSP00000502110.1",
"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": 3777,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "n.*1532G>A",
"hgvs_p": null,
"transcript": "ENST00000675144.1",
"protein_id": "ENSP00000501600.1",
"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": 3485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"dbsnp": "rs143437511",
"frequency_reference_population": 0.0042160563,
"hom_count_reference_population": 1631,
"allele_count_reference_population": 5104,
"gnomad_exomes_af": 0.00436528,
"gnomad_genomes_af": 0.00276133,
"gnomad_exomes_ac": 4793,
"gnomad_genomes_ac": 311,
"gnomad_exomes_homalt": 10,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.42,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000380833.9",
"gene_symbol": "CLCN4",
"hgnc_id": 2022,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1758G>A",
"hgvs_p": "p.Val586Val"
}
],
"clinvar_disease": " X-linked 49,Intellectual disability,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:2",
"phenotype_combined": "not specified|not provided|Intellectual disability, X-linked 49",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}