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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: 15-42775311-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42775311&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 42775311,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_173500.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "D",
"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.1822C>G",
"hgvs_p": "p.His608Asp",
"transcript": "NM_173500.4",
"protein_id": "NP_775771.3",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1822,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000267890.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173500.4"
},
{
"aa_ref": "H",
"aa_alt": "D",
"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.1822C>G",
"hgvs_p": "p.His608Asp",
"transcript": "ENST00000267890.11",
"protein_id": "ENSP00000267890.6",
"transcript_support_level": 5,
"aa_start": 608,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1822,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173500.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267890.11"
},
{
"aa_ref": "H",
"aa_alt": "D",
"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.1822C>G",
"hgvs_p": "p.His608Asp",
"transcript": "ENST00000903061.1",
"protein_id": "ENSP00000573120.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1822,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903061.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"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.1756C>G",
"hgvs_p": "p.His586Asp",
"transcript": "ENST00000903062.1",
"protein_id": "ENSP00000573121.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 1222,
"cds_start": 1756,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903062.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"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.1840C>G",
"hgvs_p": "p.His614Asp",
"transcript": "XM_005254171.6",
"protein_id": "XP_005254228.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 1250,
"cds_start": 1840,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005254171.6"
},
{
"aa_ref": "H",
"aa_alt": "D",
"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.1822C>G",
"hgvs_p": "p.His608Asp",
"transcript": "XM_047432189.1",
"protein_id": "XP_047288145.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1822,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432189.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"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.1822C>G",
"hgvs_p": "p.His608Asp",
"transcript": "XM_047432190.1",
"protein_id": "XP_047288146.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1822,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432190.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"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.1822C>G",
"hgvs_p": "p.His608Asp",
"transcript": "XM_047432191.1",
"protein_id": "XP_047288147.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 1244,
"cds_start": 1822,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432191.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"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.1807C>G",
"hgvs_p": "p.His603Asp",
"transcript": "XM_006720402.5",
"protein_id": "XP_006720465.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 1239,
"cds_start": 1807,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720402.5"
},
{
"aa_ref": "H",
"aa_alt": "D",
"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.1615C>G",
"hgvs_p": "p.His539Asp",
"transcript": "XM_005254173.6",
"protein_id": "XP_005254230.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 1175,
"cds_start": 1615,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005254173.6"
},
{
"aa_ref": "H",
"aa_alt": "D",
"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.1615C>G",
"hgvs_p": "p.His539Asp",
"transcript": "XM_006720403.5",
"protein_id": "XP_006720466.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 1175,
"cds_start": 1615,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720403.5"
},
{
"aa_ref": "H",
"aa_alt": "D",
"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.1543C>G",
"hgvs_p": "p.His515Asp",
"transcript": "XM_017021950.3",
"protein_id": "XP_016877439.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 1151,
"cds_start": 1543,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021950.3"
},
{
"aa_ref": "H",
"aa_alt": "D",
"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.667C>G",
"hgvs_p": "p.His223Asp",
"transcript": "XM_047432192.1",
"protein_id": "XP_047288148.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 859,
"cds_start": 667,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432192.1"
}
],
"gene_symbol": "TTBK2",
"gene_hgnc_id": 19141,
"dbsnp": "rs184167929",
"frequency_reference_population": 0.00006381471,
"hom_count_reference_population": 0,
"allele_count_reference_population": 103,
"gnomad_exomes_af": 0.0000643008,
"gnomad_genomes_af": 0.0000591452,
"gnomad_exomes_ac": 94,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12864375114440918,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.051,
"revel_prediction": "Benign",
"alphamissense_score": 0.1019,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.83,
"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": -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": "NM_173500.4",
"gene_symbol": "TTBK2",
"hgnc_id": 19141,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1822C>G",
"hgvs_p": "p.His608Asp"
}
],
"clinvar_disease": "Inborn genetic diseases,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}