← 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: 11-26639153-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=26639153&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 26639153,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000256737.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.2053A>G",
"hgvs_p": "p.Ser685Gly",
"transcript": "NM_031418.4",
"protein_id": "NP_113606.2",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 981,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 2199,
"cdna_end": null,
"cdna_length": 5937,
"mane_select": "ENST00000256737.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.2053A>G",
"hgvs_p": "p.Ser685Gly",
"transcript": "ENST00000256737.8",
"protein_id": "ENSP00000256737.3",
"transcript_support_level": 1,
"aa_start": 685,
"aa_end": null,
"aa_length": 981,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 2199,
"cdna_end": null,
"cdna_length": 5937,
"mane_select": "NM_031418.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.2236A>G",
"hgvs_p": "p.Ser746Gly",
"transcript": "NM_001313726.2",
"protein_id": "NP_001300655.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2236,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 2605,
"cdna_end": null,
"cdna_length": 6343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.2236A>G",
"hgvs_p": "p.Ser746Gly",
"transcript": "ENST00000672621.1",
"protein_id": "ENSP00000500506.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2236,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 2571,
"cdna_end": null,
"cdna_length": 6308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.2005A>G",
"hgvs_p": "p.Ser669Gly",
"transcript": "ENST00000525139.5",
"protein_id": "ENSP00000432576.1",
"transcript_support_level": 5,
"aa_start": 669,
"aa_end": null,
"aa_length": 965,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2898,
"cdna_start": 2128,
"cdna_end": null,
"cdna_length": 3257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.1615A>G",
"hgvs_p": "p.Ser539Gly",
"transcript": "NM_001313727.2",
"protein_id": "NP_001300656.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 835,
"cds_start": 1615,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1795,
"cdna_end": null,
"cdna_length": 5533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.1615A>G",
"hgvs_p": "p.Ser539Gly",
"transcript": "ENST00000531568.1",
"protein_id": "ENSP00000432394.1",
"transcript_support_level": 2,
"aa_start": 539,
"aa_end": null,
"aa_length": 835,
"cds_start": 1615,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 3117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.2008A>G",
"hgvs_p": "p.Ser670Gly",
"transcript": "XM_047427399.1",
"protein_id": "XP_047283355.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 966,
"cds_start": 2008,
"cds_end": null,
"cds_length": 2901,
"cdna_start": 2154,
"cdna_end": null,
"cdna_length": 5892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.1615A>G",
"hgvs_p": "p.Ser539Gly",
"transcript": "XM_017018118.3",
"protein_id": "XP_016873607.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 835,
"cds_start": 1615,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 5564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.1324A>G",
"hgvs_p": "p.Ser442Gly",
"transcript": "XM_017018119.3",
"protein_id": "XP_016873608.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 738,
"cds_start": 1324,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.655A>G",
"hgvs_p": "p.Ser219Gly",
"transcript": "XM_011520282.4",
"protein_id": "XP_011518584.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 515,
"cds_start": 655,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 4550,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300991",
"gene_hgnc_id": null,
"hgvs_c": "n.75+1750T>C",
"hgvs_p": null,
"transcript": "ENST00000775415.1",
"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": 477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"dbsnp": "rs587776923",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.48295310139656067,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.396,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3709,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.325,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000256737.8",
"gene_symbol": "ANO3",
"hgnc_id": 14004,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2053A>G",
"hgvs_p": "p.Ser685Gly"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000775415.1",
"gene_symbol": "ENSG00000300991",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.75+1750T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Dystonia 24",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Dystonia 24",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}