← 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: 15-42746173-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42746173&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 42746173,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000267890.11",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.3357T>G",
"hgvs_p": "p.Ser1119Ser",
"transcript": "NM_173500.4",
"protein_id": "NP_775771.3",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3357,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 3765,
"cdna_end": null,
"cdna_length": 11208,
"mane_select": "ENST00000267890.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.3357T>G",
"hgvs_p": "p.Ser1119Ser",
"transcript": "ENST00000267890.11",
"protein_id": "ENSP00000267890.6",
"transcript_support_level": 5,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3357,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 3765,
"cdna_end": null,
"cdna_length": 11208,
"mane_select": "NM_173500.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.3375T>G",
"hgvs_p": "p.Ser1125Ser",
"transcript": "XM_005254171.6",
"protein_id": "XP_005254228.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3375,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 4296,
"cdna_end": null,
"cdna_length": 11739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.3357T>G",
"hgvs_p": "p.Ser1119Ser",
"transcript": "XM_047432189.1",
"protein_id": "XP_047288145.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3357,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 3583,
"cdna_end": null,
"cdna_length": 11026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.3357T>G",
"hgvs_p": "p.Ser1119Ser",
"transcript": "XM_047432190.1",
"protein_id": "XP_047288146.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3357,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 3440,
"cdna_end": null,
"cdna_length": 10883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.3357T>G",
"hgvs_p": "p.Ser1119Ser",
"transcript": "XM_047432191.1",
"protein_id": "XP_047288147.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3357,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 3442,
"cdna_end": null,
"cdna_length": 10885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.3342T>G",
"hgvs_p": "p.Ser1114Ser",
"transcript": "XM_006720402.5",
"protein_id": "XP_006720465.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3342,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 3410,
"cdna_end": null,
"cdna_length": 10853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.3150T>G",
"hgvs_p": "p.Ser1050Ser",
"transcript": "XM_005254173.6",
"protein_id": "XP_005254230.1",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1175,
"cds_start": 3150,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 3617,
"cdna_end": null,
"cdna_length": 11060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.3150T>G",
"hgvs_p": "p.Ser1050Ser",
"transcript": "XM_006720403.5",
"protein_id": "XP_006720466.1",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1175,
"cds_start": 3150,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 3386,
"cdna_end": null,
"cdna_length": 10829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.3078T>G",
"hgvs_p": "p.Ser1026Ser",
"transcript": "XM_017021950.3",
"protein_id": "XP_016877439.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3078,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 3162,
"cdna_end": null,
"cdna_length": 10605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.2202T>G",
"hgvs_p": "p.Ser734Ser",
"transcript": "XM_047432192.1",
"protein_id": "XP_047288148.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 859,
"cds_start": 2202,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 4031,
"cdna_end": null,
"cdna_length": 11474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"dbsnp": "rs745306977",
"frequency_reference_population": 0.000010533034,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000102607,
"gnomad_genomes_af": 0.0000131506,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5199999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.341,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000267890.11",
"gene_symbol": "TTBK2",
"hgnc_id": 19141,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3357T>G",
"hgvs_p": "p.Ser1119Ser"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}