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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: 15-42775204-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42775204&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TTBK2",
"hgnc_id": 19141,
"hgvs_c": "c.1929T>C",
"hgvs_p": "p.Ala643Ala",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_173500.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 187,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "15",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1244,
"aa_ref": "A",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11208,
"cdna_start": 2337,
"cds_end": null,
"cds_length": 3735,
"cds_start": 1929,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_173500.4",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1929T>C",
"hgvs_p": "p.Ala643Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000267890.11",
"protein_coding": true,
"protein_id": "NP_775771.3",
"strand": false,
"transcript": "NM_173500.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1244,
"aa_ref": "A",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11208,
"cdna_start": 2337,
"cds_end": null,
"cds_length": 3735,
"cds_start": 1929,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000267890.11",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1929T>C",
"hgvs_p": "p.Ala643Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_173500.4",
"protein_coding": true,
"protein_id": "ENSP00000267890.6",
"strand": false,
"transcript": "ENST00000267890.11",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1244,
"aa_ref": "A",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6355,
"cdna_start": 3088,
"cds_end": null,
"cds_length": 3735,
"cds_start": 1929,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000903061.1",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1929T>C",
"hgvs_p": "p.Ala643Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573120.1",
"strand": false,
"transcript": "ENST00000903061.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1222,
"aa_ref": "A",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5538,
"cdna_start": 2271,
"cds_end": null,
"cds_length": 3669,
"cds_start": 1863,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000903062.1",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1863T>C",
"hgvs_p": "p.Ala621Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573121.1",
"strand": false,
"transcript": "ENST00000903062.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1250,
"aa_ref": "A",
"aa_start": 649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11739,
"cdna_start": 2868,
"cds_end": null,
"cds_length": 3753,
"cds_start": 1947,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_005254171.6",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1947T>C",
"hgvs_p": "p.Ala649Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005254228.1",
"strand": false,
"transcript": "XM_005254171.6",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1244,
"aa_ref": "A",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11026,
"cdna_start": 2155,
"cds_end": null,
"cds_length": 3735,
"cds_start": 1929,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047432189.1",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1929T>C",
"hgvs_p": "p.Ala643Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288145.1",
"strand": false,
"transcript": "XM_047432189.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1244,
"aa_ref": "A",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10883,
"cdna_start": 2012,
"cds_end": null,
"cds_length": 3735,
"cds_start": 1929,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047432190.1",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1929T>C",
"hgvs_p": "p.Ala643Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288146.1",
"strand": false,
"transcript": "XM_047432190.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1244,
"aa_ref": "A",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10885,
"cdna_start": 2014,
"cds_end": null,
"cds_length": 3735,
"cds_start": 1929,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047432191.1",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1929T>C",
"hgvs_p": "p.Ala643Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288147.1",
"strand": false,
"transcript": "XM_047432191.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1239,
"aa_ref": "A",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10853,
"cdna_start": 1982,
"cds_end": null,
"cds_length": 3720,
"cds_start": 1914,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_006720402.5",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1914T>C",
"hgvs_p": "p.Ala638Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720465.1",
"strand": false,
"transcript": "XM_006720402.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "A",
"aa_start": 574,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11060,
"cdna_start": 2189,
"cds_end": null,
"cds_length": 3528,
"cds_start": 1722,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_005254173.6",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1722T>C",
"hgvs_p": "p.Ala574Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005254230.1",
"strand": false,
"transcript": "XM_005254173.6",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "A",
"aa_start": 574,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10829,
"cdna_start": 1958,
"cds_end": null,
"cds_length": 3528,
"cds_start": 1722,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_006720403.5",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1722T>C",
"hgvs_p": "p.Ala574Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720466.1",
"strand": false,
"transcript": "XM_006720403.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1151,
"aa_ref": "A",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10605,
"cdna_start": 1734,
"cds_end": null,
"cds_length": 3456,
"cds_start": 1650,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_017021950.3",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1650T>C",
"hgvs_p": "p.Ala550Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877439.1",
"strand": false,
"transcript": "XM_017021950.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 859,
"aa_ref": "A",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11474,
"cdna_start": 2603,
"cds_end": null,
"cds_length": 2580,
"cds_start": 774,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047432192.1",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.774T>C",
"hgvs_p": "p.Ala258Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288148.1",
"strand": false,
"transcript": "XM_047432192.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs376543555",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000115846,
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"gnomad_exomes_ac": 95,
"gnomad_exomes_af": 0.0000649853,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 92,
"gnomad_genomes_af": 0.000603904,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "not specified|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.511,
"pos": 42775204,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_173500.4"
}
]
}