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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: 15-69269179-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=69269179&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 69269179,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000261858.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLCE",
"gene_hgnc_id": 17855,
"hgvs_c": "c.1789G>A",
"hgvs_p": "p.Val597Ile",
"transcript": "NM_015554.3",
"protein_id": "NP_056369.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 617,
"cds_start": 1789,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 2016,
"cdna_end": null,
"cdna_length": 5044,
"mane_select": "ENST00000261858.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLCE",
"gene_hgnc_id": 17855,
"hgvs_c": "c.1789G>A",
"hgvs_p": "p.Val597Ile",
"transcript": "ENST00000261858.7",
"protein_id": "ENSP00000261858.2",
"transcript_support_level": 1,
"aa_start": 597,
"aa_end": null,
"aa_length": 617,
"cds_start": 1789,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 2016,
"cdna_end": null,
"cdna_length": 5044,
"mane_select": "NM_015554.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLCE",
"gene_hgnc_id": 17855,
"hgvs_c": "c.1597G>A",
"hgvs_p": "p.Val533Ile",
"transcript": "ENST00000559420.2",
"protein_id": "ENSP00000454092.1",
"transcript_support_level": 1,
"aa_start": 533,
"aa_end": null,
"aa_length": 553,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1802,
"cdna_end": null,
"cdna_length": 4840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLCE",
"gene_hgnc_id": 17855,
"hgvs_c": "c.1789G>A",
"hgvs_p": "p.Val597Ile",
"transcript": "NM_001324093.2",
"protein_id": "NP_001311022.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 617,
"cds_start": 1789,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 2143,
"cdna_end": null,
"cdna_length": 5171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLCE",
"gene_hgnc_id": 17855,
"hgvs_c": "c.1789G>A",
"hgvs_p": "p.Val597Ile",
"transcript": "NM_001324094.2",
"protein_id": "NP_001311023.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 617,
"cds_start": 1789,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 3143,
"cdna_end": null,
"cdna_length": 6171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLCE",
"gene_hgnc_id": 17855,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Ile",
"transcript": "NM_001324092.2",
"protein_id": "NP_001311021.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 360,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 4445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLCE",
"gene_hgnc_id": 17855,
"hgvs_c": "c.1873G>A",
"hgvs_p": "p.Val625Ile",
"transcript": "XM_047432376.1",
"protein_id": "XP_047288332.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 645,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 2862,
"cdna_end": null,
"cdna_length": 5890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLCE",
"gene_hgnc_id": 17855,
"hgvs_c": "c.1873G>A",
"hgvs_p": "p.Val625Ile",
"transcript": "XM_047432377.1",
"protein_id": "XP_047288333.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 645,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 3334,
"cdna_end": null,
"cdna_length": 6362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLCE",
"gene_hgnc_id": 17855,
"hgvs_c": "c.1873G>A",
"hgvs_p": "p.Val625Ile",
"transcript": "XM_047432379.1",
"protein_id": "XP_047288335.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 645,
"cds_start": 1873,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 11520,
"cdna_end": null,
"cdna_length": 14548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLCE",
"gene_hgnc_id": 17855,
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Val603Ile",
"transcript": "XM_017022073.2",
"protein_id": "XP_016877562.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 623,
"cds_start": 1807,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 2123,
"cdna_end": null,
"cdna_length": 5151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PAQR5-DT",
"gene_hgnc_id": 55353,
"hgvs_c": "n.446-3746C>T",
"hgvs_p": null,
"transcript": "ENST00000746778.1",
"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": 916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GLCE",
"gene_hgnc_id": 17855,
"dbsnp": "rs3865014",
"frequency_reference_population": 0.7528735,
"hom_count_reference_population": 461260,
"allele_count_reference_population": 1214546,
"gnomad_exomes_af": 0.759545,
"gnomad_genomes_af": 0.688735,
"gnomad_exomes_ac": 1109861,
"gnomad_genomes_ac": 104685,
"gnomad_exomes_homalt": 424005,
"gnomad_genomes_homalt": 37255,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 9.259191529054078e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.063,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.181,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000261858.7",
"gene_symbol": "GLCE",
"hgnc_id": 17855,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1789G>A",
"hgvs_p": "p.Val597Ile"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000746778.1",
"gene_symbol": "PAQR5-DT",
"hgnc_id": 55353,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.446-3746C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}