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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: 15-42777084-TTC-CTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42777084&ref=TTC&alt=CTT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TTBK2",
"hgnc_id": 19141,
"hgvs_c": "c.1354_1356delGAAinsAAG",
"hgvs_p": "p.Glu452Lys",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_173500.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CTT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1244,
"aa_ref": "E",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11208,
"cdna_start": 1764,
"cds_end": null,
"cds_length": 3735,
"cds_start": 1354,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_173500.4",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1354_1356delGAAinsAAG",
"hgvs_p": "p.Glu452Lys",
"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": "K",
"aa_end": null,
"aa_length": 1244,
"aa_ref": "E",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11208,
"cdna_start": 1764,
"cds_end": null,
"cds_length": 3735,
"cds_start": 1354,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000267890.11",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1354_1356delGAAinsAAG",
"hgvs_p": "p.Glu452Lys",
"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": "K",
"aa_end": null,
"aa_length": 478,
"aa_ref": "E",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1961,
"cdna_start": 1795,
"cds_end": null,
"cds_length": 1437,
"cds_start": 1354,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000567840.5",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1354_1356delGAAinsAAG",
"hgvs_p": "p.Glu452Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455734.1",
"strand": false,
"transcript": "ENST00000567840.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1244,
"aa_ref": "E",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6355,
"cdna_start": 2515,
"cds_end": null,
"cds_length": 3735,
"cds_start": 1354,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903061.1",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1354_1356delGAAinsAAG",
"hgvs_p": "p.Glu452Lys",
"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": "K",
"aa_end": null,
"aa_length": 1222,
"aa_ref": "E",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5538,
"cdna_start": 1698,
"cds_end": null,
"cds_length": 3669,
"cds_start": 1288,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903062.1",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1288_1290delGAAinsAAG",
"hgvs_p": "p.Glu430Lys",
"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": "K",
"aa_end": null,
"aa_length": 443,
"aa_ref": "E",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1777,
"cdna_start": 1643,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000567274.5",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1249_1251delGAAinsAAG",
"hgvs_p": "p.Glu417Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457489.1",
"strand": false,
"transcript": "ENST00000567274.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1250,
"aa_ref": "E",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11739,
"cdna_start": 2295,
"cds_end": null,
"cds_length": 3753,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005254171.6",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1372_1374delGAAinsAAG",
"hgvs_p": "p.Glu458Lys",
"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": "K",
"aa_end": null,
"aa_length": 1244,
"aa_ref": "E",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11026,
"cdna_start": 1582,
"cds_end": null,
"cds_length": 3735,
"cds_start": 1354,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047432189.1",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1354_1356delGAAinsAAG",
"hgvs_p": "p.Glu452Lys",
"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": "K",
"aa_end": null,
"aa_length": 1244,
"aa_ref": "E",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10883,
"cdna_start": 1439,
"cds_end": null,
"cds_length": 3735,
"cds_start": 1354,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047432190.1",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1354_1356delGAAinsAAG",
"hgvs_p": "p.Glu452Lys",
"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": "K",
"aa_end": null,
"aa_length": 1244,
"aa_ref": "E",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10885,
"cdna_start": 1441,
"cds_end": null,
"cds_length": 3735,
"cds_start": 1354,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047432191.1",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1354_1356delGAAinsAAG",
"hgvs_p": "p.Glu452Lys",
"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": "K",
"aa_end": null,
"aa_length": 1239,
"aa_ref": "E",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10853,
"cdna_start": 1409,
"cds_end": null,
"cds_length": 3720,
"cds_start": 1339,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006720402.5",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1339_1341delGAAinsAAG",
"hgvs_p": "p.Glu447Lys",
"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": "K",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "E",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11060,
"cdna_start": 1616,
"cds_end": null,
"cds_length": 3528,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005254173.6",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1147_1149delGAAinsAAG",
"hgvs_p": "p.Glu383Lys",
"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": "K",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "E",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10829,
"cdna_start": 1385,
"cds_end": null,
"cds_length": 3528,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006720403.5",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1147_1149delGAAinsAAG",
"hgvs_p": "p.Glu383Lys",
"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": "K",
"aa_end": null,
"aa_length": 1151,
"aa_ref": "E",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10605,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 3456,
"cds_start": 1075,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017021950.3",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.1075_1077delGAAinsAAG",
"hgvs_p": "p.Glu359Lys",
"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": "K",
"aa_end": null,
"aa_length": 859,
"aa_ref": "E",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11474,
"cdna_start": 2030,
"cds_end": null,
"cds_length": 2580,
"cds_start": 199,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047432192.1",
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"hgvs_c": "c.199_201delGAAinsAAG",
"hgvs_p": "p.Glu67Lys",
"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": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 19141,
"gene_symbol": "TTBK2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.384,
"pos": 42777084,
"ref": "TTC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_173500.4"
}
]
}