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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: 12-64497638-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=64497638&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 64497638,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000331710.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1960-10G>T",
"hgvs_p": null,
"transcript": "NM_013254.4",
"protein_id": "NP_037386.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 729,
"cds_start": -4,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": "ENST00000331710.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1960-10G>T",
"hgvs_p": null,
"transcript": "ENST00000331710.10",
"protein_id": "ENSP00000329967.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 729,
"cds_start": -4,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": "NM_013254.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1960-10G>T",
"hgvs_p": null,
"transcript": "ENST00000650790.1",
"protein_id": "ENSP00000498995.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 729,
"cds_start": -4,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1957-10G>T",
"hgvs_p": null,
"transcript": "ENST00000677641.1",
"protein_id": "ENSP00000504637.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 728,
"cds_start": -4,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1945-10G>T",
"hgvs_p": null,
"transcript": "ENST00000677632.1",
"protein_id": "ENSP00000504586.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 724,
"cds_start": -4,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1960-10G>T",
"hgvs_p": null,
"transcript": "ENST00000652657.1",
"protein_id": "ENSP00000498887.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 705,
"cds_start": -4,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1858-10G>T",
"hgvs_p": null,
"transcript": "ENST00000678180.1",
"protein_id": "ENSP00000504132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 695,
"cds_start": -4,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1804-10G>T",
"hgvs_p": null,
"transcript": "ENST00000651014.1",
"protein_id": "ENSP00000498885.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 677,
"cds_start": -4,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1804-10G>T",
"hgvs_p": null,
"transcript": "ENST00000676912.1",
"protein_id": "ENSP00000503567.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 677,
"cds_start": -4,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1702-10G>T",
"hgvs_p": null,
"transcript": "ENST00000650762.1",
"protein_id": "ENSP00000498758.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 643,
"cds_start": -4,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1612-10G>T",
"hgvs_p": null,
"transcript": "ENST00000676930.1",
"protein_id": "ENSP00000502899.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 613,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "TBK1",
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"hgvs_c": "c.79-3692G>T",
"hgvs_p": null,
"transcript": "ENST00000676587.1",
"protein_id": "ENSP00000504858.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 5,
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"gene_symbol": "TBK1",
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"hgvs_c": "n.866-10G>T",
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"transcript": "ENST00000545392.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
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"strand": true,
"consequences": [
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],
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"exon_count": 19,
"intron_rank": 16,
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"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.*369-10G>T",
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"transcript": "ENST00000650708.1",
"protein_id": "ENSP00000498667.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.*2105-10G>T",
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"transcript": "ENST00000650786.1",
"protein_id": "ENSP00000498280.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 18,
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"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.1960-10G>T",
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"transcript": "ENST00000650997.1",
"protein_id": "ENSP00000498341.1",
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},
{
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],
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"gene_symbol": "TBK1",
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"hgvs_c": "n.*227-10G>T",
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"transcript": "ENST00000651262.1",
"protein_id": "ENSP00000498461.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 19,
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"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.*1444-10G>T",
"hgvs_p": null,
"transcript": "ENST00000651878.1",
"protein_id": "ENSP00000499077.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 19,
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"gene_symbol": "TBK1",
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"hgvs_c": "n.*340-10G>T",
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"transcript": "ENST00000652537.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "TBK1",
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},
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],
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"gene_symbol": "TBK1",
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},
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"strand": true,
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"intron_variant"
],
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"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.*649-10G>T",
"hgvs_p": null,
"transcript": "ENST00000676809.1",
"protein_id": "ENSP00000504298.1",
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"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.*336-10G>T",
"hgvs_p": null,
"transcript": "ENST00000677499.1",
"protein_id": "ENSP00000502875.1",
"transcript_support_level": null,
"aa_start": null,
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},
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}
],
"gene_symbol": "TBK1",
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"dbsnp": "rs371275822",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0.013822,
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"gnomad_exomes_ac": 6794,
"gnomad_genomes_ac": 1514,
"gnomad_exomes_homalt": 0,
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"computational_score_selected": -0.7400000095367432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.012000000104308128,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.199,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000778380850053629,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000331710.10",
"gene_symbol": "TBK1",
"hgnc_id": 11584,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1960-10G>T",
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}
],
"clinvar_disease": " P, open angle,Frontotemporal dementia and/or amyotrophic lateral sclerosis 4,Glaucoma 1",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 4|Glaucoma 1, open angle, P",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}