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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: 15-42775578-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42775578&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 42775578,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000267890.11",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1555G>C",
"hgvs_p": "p.Ala519Pro",
"transcript": "NM_173500.4",
"protein_id": "NP_775771.3",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1555,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 1963,
"cdna_end": null,
"cdna_length": 11208,
"mane_select": "ENST00000267890.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1555G>C",
"hgvs_p": "p.Ala519Pro",
"transcript": "ENST00000267890.11",
"protein_id": "ENSP00000267890.6",
"transcript_support_level": 5,
"aa_start": 519,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1555,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 1963,
"cdna_end": null,
"cdna_length": 11208,
"mane_select": "NM_173500.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1573G>C",
"hgvs_p": "p.Ala525Pro",
"transcript": "XM_005254171.6",
"protein_id": "XP_005254228.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 1250,
"cds_start": 1573,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 2494,
"cdna_end": null,
"cdna_length": 11739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1555G>C",
"hgvs_p": "p.Ala519Pro",
"transcript": "XM_047432189.1",
"protein_id": "XP_047288145.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1555,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 1781,
"cdna_end": null,
"cdna_length": 11026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1555G>C",
"hgvs_p": "p.Ala519Pro",
"transcript": "XM_047432190.1",
"protein_id": "XP_047288146.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1555,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 10883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1555G>C",
"hgvs_p": "p.Ala519Pro",
"transcript": "XM_047432191.1",
"protein_id": "XP_047288147.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1555,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 10885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1540G>C",
"hgvs_p": "p.Ala514Pro",
"transcript": "XM_006720402.5",
"protein_id": "XP_006720465.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 1239,
"cds_start": 1540,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 10853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1348G>C",
"hgvs_p": "p.Ala450Pro",
"transcript": "XM_005254173.6",
"protein_id": "XP_005254230.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 1175,
"cds_start": 1348,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 1815,
"cdna_end": null,
"cdna_length": 11060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1348G>C",
"hgvs_p": "p.Ala450Pro",
"transcript": "XM_006720403.5",
"protein_id": "XP_006720466.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 1175,
"cds_start": 1348,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 1584,
"cdna_end": null,
"cdna_length": 10829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1276G>C",
"hgvs_p": "p.Ala426Pro",
"transcript": "XM_017021950.3",
"protein_id": "XP_016877439.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 1151,
"cds_start": 1276,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 10605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.400G>C",
"hgvs_p": "p.Ala134Pro",
"transcript": "XM_047432192.1",
"protein_id": "XP_047288148.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 859,
"cds_start": 400,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 11474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"dbsnp": "rs200124857",
"frequency_reference_population": 0.0002521601,
"hom_count_reference_population": 0,
"allele_count_reference_population": 407,
"gnomad_exomes_af": 0.000250364,
"gnomad_genomes_af": 0.000269418,
"gnomad_exomes_ac": 366,
"gnomad_genomes_ac": 41,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01880815625190735,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.155,
"revel_prediction": "Benign",
"alphamissense_score": 0.1178,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.698,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000267890.11",
"gene_symbol": "TTBK2",
"hgnc_id": 19141,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1555G>C",
"hgvs_p": "p.Ala519Pro"
}
],
"clinvar_disease": "Inborn genetic diseases,Spinocerebellar ataxia type 11,TTBK2-related disorder,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3 B:1",
"phenotype_combined": "Spinocerebellar ataxia type 11|not provided|Inborn genetic diseases|TTBK2-related disorder|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}