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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: 15-42783490-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42783490&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 42783490,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000267890.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1126C>G",
"hgvs_p": "p.Arg376Gly",
"transcript": "NM_173500.4",
"protein_id": "NP_775771.3",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1126,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 11208,
"mane_select": "ENST00000267890.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1126C>G",
"hgvs_p": "p.Arg376Gly",
"transcript": "ENST00000267890.11",
"protein_id": "ENSP00000267890.6",
"transcript_support_level": 5,
"aa_start": 376,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1126,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 11208,
"mane_select": "NM_173500.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1126C>G",
"hgvs_p": "p.Arg376Gly",
"transcript": "ENST00000567840.5",
"protein_id": "ENSP00000455734.1",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 478,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1021C>G",
"hgvs_p": "p.Arg341Gly",
"transcript": "ENST00000567274.5",
"protein_id": "ENSP00000457489.1",
"transcript_support_level": 5,
"aa_start": 341,
"aa_end": null,
"aa_length": 443,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1144C>G",
"hgvs_p": "p.Arg382Gly",
"transcript": "XM_005254171.6",
"protein_id": "XP_005254228.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 1250,
"cds_start": 1144,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 11739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1126C>G",
"hgvs_p": "p.Arg376Gly",
"transcript": "XM_047432189.1",
"protein_id": "XP_047288145.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1126,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 11026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1126C>G",
"hgvs_p": "p.Arg376Gly",
"transcript": "XM_047432190.1",
"protein_id": "XP_047288146.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1126,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 10883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1126C>G",
"hgvs_p": "p.Arg376Gly",
"transcript": "XM_047432191.1",
"protein_id": "XP_047288147.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1126,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 10885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.1111C>G",
"hgvs_p": "p.Arg371Gly",
"transcript": "XM_006720402.5",
"protein_id": "XP_006720465.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 1239,
"cds_start": 1111,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 10853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.919C>G",
"hgvs_p": "p.Arg307Gly",
"transcript": "XM_005254173.6",
"protein_id": "XP_005254230.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 1175,
"cds_start": 919,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 11060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.919C>G",
"hgvs_p": "p.Arg307Gly",
"transcript": "XM_006720403.5",
"protein_id": "XP_006720466.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 1175,
"cds_start": 919,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 10829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.847C>G",
"hgvs_p": "p.Arg283Gly",
"transcript": "XM_017021950.3",
"protein_id": "XP_016877439.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 1151,
"cds_start": 847,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 10605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"hgvs_c": "c.-30C>G",
"hgvs_p": null,
"transcript": "XM_047432192.1",
"protein_id": "XP_047288148.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 859,
"cds_start": -4,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"dbsnp": "rs759216076",
"frequency_reference_population": 0.000005472443,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000547244,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13126355409622192,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.081,
"revel_prediction": "Benign",
"alphamissense_score": 0.1114,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.046,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000267890.11",
"gene_symbol": "TTBK2",
"hgnc_id": 19141,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1126C>G",
"hgvs_p": "p.Arg376Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}