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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: 16-2496605-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2496605&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 2496605,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000564543.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Glu153Lys",
"transcript": "NM_001199107.2",
"protein_id": "NP_001186036.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 559,
"cds_start": 457,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 6611,
"mane_select": "ENST00000646147.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Glu153Lys",
"transcript": "ENST00000646147.1",
"protein_id": "ENSP00000494678.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 559,
"cds_start": 457,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 6611,
"mane_select": "NM_001199107.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Glu153Lys",
"transcript": "ENST00000567020.7",
"protein_id": "ENSP00000454408.1",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 553,
"cds_start": 457,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 10610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260272",
"gene_hgnc_id": null,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Glu153Lys",
"transcript": "ENST00000564543.1",
"protein_id": "ENSP00000455547.1",
"transcript_support_level": 2,
"aa_start": 153,
"aa_end": null,
"aa_length": 376,
"cds_start": 457,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 1944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Glu153Lys",
"transcript": "NM_020705.3",
"protein_id": "NP_065756.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 553,
"cds_start": 457,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 6593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Glu153Lys",
"transcript": "ENST00000627285.1",
"protein_id": "ENSP00000486121.1",
"transcript_support_level": 5,
"aa_start": 153,
"aa_end": null,
"aa_length": 553,
"cds_start": 457,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 4382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Glu153Lys",
"transcript": "ENST00000643767.1",
"protein_id": "ENSP00000494145.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 464,
"cds_start": 457,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 1560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Glu153Lys",
"transcript": "ENST00000562105.2",
"protein_id": "ENSP00000457896.2",
"transcript_support_level": 3,
"aa_start": 153,
"aa_end": null,
"aa_length": 454,
"cds_start": 457,
"cds_end": null,
"cds_length": 1367,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 1550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Glu153Lys",
"transcript": "XM_017023493.2",
"protein_id": "XP_016878982.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 559,
"cds_start": 457,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 5874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Glu153Lys",
"transcript": "XM_047434388.1",
"protein_id": "XP_047290344.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 559,
"cds_start": 457,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 6635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Glu153Lys",
"transcript": "XM_017023494.2",
"protein_id": "XP_016878983.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 553,
"cds_start": 457,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 6617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Glu153Lys",
"transcript": "XM_017023495.2",
"protein_id": "XP_016878984.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 553,
"cds_start": 457,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 5856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "n.457G>A",
"hgvs_p": null,
"transcript": "ENST00000569874.2",
"protein_id": "ENSP00000455005.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D24",
"gene_hgnc_id": 29203,
"hgvs_c": "n.457G>A",
"hgvs_p": null,
"transcript": "ENST00000630263.2",
"protein_id": "ENSP00000486835.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ENSG00000260272",
"gene_hgnc_id": null,
"dbsnp": "rs376712059",
"frequency_reference_population": 0.00005153954,
"hom_count_reference_population": 0,
"allele_count_reference_population": 83,
"gnomad_exomes_af": 0.0000541773,
"gnomad_genomes_af": 0.0000262743,
"gnomad_exomes_ac": 79,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5758943557739258,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.784,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6492,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.67,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000564543.1",
"gene_symbol": "ENSG00000260272",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Glu153Lys"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000646147.1",
"gene_symbol": "TBC1D24",
"hgnc_id": 29203,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Glu153Lys"
}
],
"clinvar_disease": " 1, 16, member 24,Autosomal dominant nonsyndromic hearing loss 65,Autosomal recessive nonsyndromic hearing loss 86,Caused by mutation in the TBC1 domain family,DOORS syndrome,Developmental and epileptic encephalopathy,Familial infantile myoclonic epilepsy,Inborn genetic diseases,Rare genetic deafness,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:5 US:1",
"phenotype_combined": "not provided|Rare genetic deafness|Autosomal dominant nonsyndromic hearing loss 65;Developmental and epileptic encephalopathy, 1;Caused by mutation in the TBC1 domain family, member 24|Autosomal recessive nonsyndromic hearing loss 86;Autosomal dominant nonsyndromic hearing loss 65;Familial infantile myoclonic epilepsy;DOORS syndrome;Developmental and epileptic encephalopathy, 16|DOORS syndrome|Inborn genetic diseases|Developmental and epileptic encephalopathy, 16",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}