← 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: 11-26559835-T-TACACACACACACACAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=26559835&ref=T&alt=TACACACACACACACAC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 26559835,
"ref": "T",
"alt": "TACACACACACACACAC",
"effect": "3_prime_UTR_variant",
"transcript": "NM_001135091.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC15",
"gene_hgnc_id": 14956,
"hgvs_c": "c.*1214_*1229dupGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "NM_001135091.2",
"protein_id": "NP_001128563.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": null,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000529533.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135091.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC15",
"gene_hgnc_id": 14956,
"hgvs_c": "c.*1214_*1229dupGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000529533.6",
"protein_id": "ENSP00000431983.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": null,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001135091.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529533.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.1447+81_1447+96dupACACACACACACACAC",
"hgvs_p": null,
"transcript": "NM_031418.4",
"protein_id": "NP_113606.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 981,
"cds_start": null,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000256737.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031418.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.1447+81_1447+96dupACACACACACACACAC",
"hgvs_p": null,
"transcript": "ENST00000256737.8",
"protein_id": "ENSP00000256737.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 981,
"cds_start": null,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031418.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256737.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC15",
"gene_hgnc_id": 14956,
"hgvs_c": "c.*1214_*1229dupGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000436318.6",
"protein_id": "ENSP00000416753.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": null,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436318.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC15",
"gene_hgnc_id": 14956,
"hgvs_c": "c.*1214_*1229dupGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "NM_145650.4",
"protein_id": "NP_663625.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": null,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145650.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC15",
"gene_hgnc_id": 14956,
"hgvs_c": "c.*1214_*1229dupGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000455601.6",
"protein_id": "ENSP00000397339.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": null,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455601.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC15",
"gene_hgnc_id": 14956,
"hgvs_c": "c.*1214_*1229dupGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "NM_001135092.2",
"protein_id": "NP_001128564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": null,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135092.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC15",
"gene_hgnc_id": 14956,
"hgvs_c": "c.*1214_*1229dupGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000281268.12",
"protein_id": "ENSP00000281268.8",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": null,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000281268.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.1630+81_1630+96dupACACACACACACACAC",
"hgvs_p": null,
"transcript": "NM_001313726.2",
"protein_id": "NP_001300655.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1042,
"cds_start": null,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001313726.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.1630+81_1630+96dupACACACACACACACAC",
"hgvs_p": null,
"transcript": "ENST00000672621.1",
"protein_id": "ENSP00000500506.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1042,
"cds_start": null,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672621.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.1399+81_1399+96dupACACACACACACACAC",
"hgvs_p": null,
"transcript": "ENST00000525139.5",
"protein_id": "ENSP00000432576.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 965,
"cds_start": null,
"cds_end": null,
"cds_length": 2898,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525139.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.1009+81_1009+96dupACACACACACACACAC",
"hgvs_p": null,
"transcript": "NM_001313727.2",
"protein_id": "NP_001300656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 835,
"cds_start": null,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001313727.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.1009+81_1009+96dupACACACACACACACAC",
"hgvs_p": null,
"transcript": "ENST00000531568.1",
"protein_id": "ENSP00000432394.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 835,
"cds_start": null,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531568.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.1402+81_1402+96dupACACACACACACACAC",
"hgvs_p": null,
"transcript": "XM_047427399.1",
"protein_id": "XP_047283355.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 966,
"cds_start": null,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427399.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.1009+81_1009+96dupACACACACACACACAC",
"hgvs_p": null,
"transcript": "XM_017018118.3",
"protein_id": "XP_016873607.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 835,
"cds_start": null,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018118.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "c.718+81_718+96dupACACACACACACACAC",
"hgvs_p": null,
"transcript": "XM_017018119.3",
"protein_id": "XP_016873608.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": null,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018119.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ANO3",
"gene_hgnc_id": 14004,
"hgvs_c": "n.417+81_417+96dupACACACACACACACAC",
"hgvs_p": null,
"transcript": "ENST00000529242.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000529242.1"
}
],
"gene_symbol": "MUC15",
"gene_hgnc_id": 14956,
"dbsnp": "rs71047866",
"frequency_reference_population": 0.000004532119,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000386221,
"gnomad_genomes_af": 0.00000693943,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.333,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001135091.2",
"gene_symbol": "MUC15",
"hgnc_id": 14956,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*1214_*1229dupGTGTGTGTGTGTGTGT",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001313726.2",
"gene_symbol": "ANO3",
"hgnc_id": 14004,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1630+81_1630+96dupACACACACACACACAC",
"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
}