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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: 11-26599685-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=26599685&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 26599685,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000256737.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.1807A>G",
"hgvs_p": "p.Asn603Asp",
"transcript": "NM_031418.4",
"protein_id": "NP_113606.2",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 981,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 5937,
"mane_select": "ENST00000256737.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.1807A>G",
"hgvs_p": "p.Asn603Asp",
"transcript": "ENST00000256737.8",
"protein_id": "ENSP00000256737.3",
"transcript_support_level": 1,
"aa_start": 603,
"aa_end": null,
"aa_length": 981,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 1953,
"cdna_end": null,
"cdna_length": 5937,
"mane_select": "NM_031418.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.1990A>G",
"hgvs_p": "p.Asn664Asp",
"transcript": "NM_001313726.2",
"protein_id": "NP_001300655.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1990,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 2359,
"cdna_end": null,
"cdna_length": 6343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.1990A>G",
"hgvs_p": "p.Asn664Asp",
"transcript": "ENST00000672621.1",
"protein_id": "ENSP00000500506.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1990,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 6308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.1759A>G",
"hgvs_p": "p.Asn587Asp",
"transcript": "ENST00000525139.5",
"protein_id": "ENSP00000432576.1",
"transcript_support_level": 5,
"aa_start": 587,
"aa_end": null,
"aa_length": 965,
"cds_start": 1759,
"cds_end": null,
"cds_length": 2898,
"cdna_start": 1882,
"cdna_end": null,
"cdna_length": 3257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.1369A>G",
"hgvs_p": "p.Asn457Asp",
"transcript": "NM_001313727.2",
"protein_id": "NP_001300656.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 835,
"cds_start": 1369,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 5533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.1369A>G",
"hgvs_p": "p.Asn457Asp",
"transcript": "ENST00000531568.1",
"protein_id": "ENSP00000432394.1",
"transcript_support_level": 2,
"aa_start": 457,
"aa_end": null,
"aa_length": 835,
"cds_start": 1369,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 3117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.1762A>G",
"hgvs_p": "p.Asn588Asp",
"transcript": "XM_047427399.1",
"protein_id": "XP_047283355.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 966,
"cds_start": 1762,
"cds_end": null,
"cds_length": 2901,
"cdna_start": 1908,
"cdna_end": null,
"cdna_length": 5892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.1369A>G",
"hgvs_p": "p.Asn457Asp",
"transcript": "XM_017018118.3",
"protein_id": "XP_016873607.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 835,
"cds_start": 1369,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 5564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.1078A>G",
"hgvs_p": "p.Asn360Asp",
"transcript": "XM_017018119.3",
"protein_id": "XP_016873608.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 738,
"cds_start": 1078,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.409A>G",
"hgvs_p": "p.Asn137Asp",
"transcript": "XM_011520282.4",
"protein_id": "XP_011518584.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 515,
"cds_start": 409,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 4550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"dbsnp": "rs1554976233",
"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": 0.8881695866584778,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.585,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9438,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.294,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000256737.8",
"gene_symbol": "ANO3",
"hgnc_id": 14004,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1807A>G",
"hgvs_p": "p.Asn603Asp"
}
],
"clinvar_disease": "Dystonia 24,Dystonic disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Dystonic disorder|Dystonia 24",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}