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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: 15-42777166-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42777166&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 42777166,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000267890.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1274G>A",
"hgvs_p": "p.Arg425His",
"transcript": "NM_173500.4",
"protein_id": "NP_775771.3",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1274,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 11208,
"mane_select": "ENST00000267890.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1274G>A",
"hgvs_p": "p.Arg425His",
"transcript": "ENST00000267890.11",
"protein_id": "ENSP00000267890.6",
"transcript_support_level": 5,
"aa_start": 425,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1274,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 11208,
"mane_select": "NM_173500.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1274G>A",
"hgvs_p": "p.Arg425His",
"transcript": "ENST00000567840.5",
"protein_id": "ENSP00000455734.1",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 478,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1169G>A",
"hgvs_p": "p.Arg390His",
"transcript": "ENST00000567274.5",
"protein_id": "ENSP00000457489.1",
"transcript_support_level": 5,
"aa_start": 390,
"aa_end": null,
"aa_length": 443,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Arg431His",
"transcript": "XM_005254171.6",
"protein_id": "XP_005254228.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 1250,
"cds_start": 1292,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 2213,
"cdna_end": null,
"cdna_length": 11739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1274G>A",
"hgvs_p": "p.Arg425His",
"transcript": "XM_047432189.1",
"protein_id": "XP_047288145.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1274,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 1500,
"cdna_end": null,
"cdna_length": 11026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1274G>A",
"hgvs_p": "p.Arg425His",
"transcript": "XM_047432190.1",
"protein_id": "XP_047288146.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1274,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 10883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1274G>A",
"hgvs_p": "p.Arg425His",
"transcript": "XM_047432191.1",
"protein_id": "XP_047288147.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1274,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 10885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1259G>A",
"hgvs_p": "p.Arg420His",
"transcript": "XM_006720402.5",
"protein_id": "XP_006720465.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 1239,
"cds_start": 1259,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 10853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Arg356His",
"transcript": "XM_005254173.6",
"protein_id": "XP_005254230.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 1175,
"cds_start": 1067,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 11060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1067G>A",
"hgvs_p": "p.Arg356His",
"transcript": "XM_006720403.5",
"protein_id": "XP_006720466.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 1175,
"cds_start": 1067,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 10829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332His",
"transcript": "XM_017021950.3",
"protein_id": "XP_016877439.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 1151,
"cds_start": 995,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 10605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.119G>A",
"hgvs_p": "p.Arg40His",
"transcript": "XM_047432192.1",
"protein_id": "XP_047288148.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 859,
"cds_start": 119,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 1948,
"cdna_end": null,
"cdna_length": 11474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"dbsnp": "rs370495535",
"frequency_reference_population": 0.00007991753,
"hom_count_reference_population": 1,
"allele_count_reference_population": 129,
"gnomad_exomes_af": 0.0000827696,
"gnomad_genomes_af": 0.0000525369,
"gnomad_exomes_ac": 121,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1280284821987152,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.1481,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.459,
"phylop100way_prediction": "Uncertain_significance",
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000267890.11",
"gene_symbol": "TTBK2",
"hgnc_id": 19141,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1274G>A",
"hgvs_p": "p.Arg425His"
}
],
"clinvar_disease": "Spinocerebellar ataxia type 11,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:4",
"phenotype_combined": "not specified|not provided|Spinocerebellar ataxia type 11",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}