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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: 3-17166874-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=17166874&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TBC1D5",
"hgnc_id": 19166,
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Glu685Lys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001134381.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000285731",
"hgnc_id": null,
"hgvs_c": "n.863+11382C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000649558.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 48,
"alphamissense_prediction": null,
"alphamissense_score": 0.2236,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.46913284063339233,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 817,
"aa_ref": "E",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6500,
"cdna_start": 2304,
"cds_end": null,
"cds_length": 2454,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001349074.2",
"gene_hgnc_id": 19166,
"gene_symbol": "TBC1D5",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Glu685Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000696125.1",
"protein_coding": true,
"protein_id": "NP_001336003.1",
"strand": false,
"transcript": "NM_001349074.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 817,
"aa_ref": "E",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6500,
"cdna_start": 2304,
"cds_end": null,
"cds_length": 2454,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000696125.1",
"gene_hgnc_id": 19166,
"gene_symbol": "TBC1D5",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Glu685Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001349074.2",
"protein_coding": true,
"protein_id": "ENSP00000512418.1",
"strand": false,
"transcript": "ENST00000696125.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 817,
"aa_ref": "E",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3124,
"cdna_start": 2317,
"cds_end": null,
"cds_length": 2454,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000446818.6",
"gene_hgnc_id": 19166,
"gene_symbol": "TBC1D5",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Glu685Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402935.2",
"strand": false,
"transcript": "ENST00000446818.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 795,
"aa_ref": "E",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7854,
"cdna_start": 3652,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1987,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000253692.11",
"gene_hgnc_id": 19166,
"gene_symbol": "TBC1D5",
"hgvs_c": "c.1987G>A",
"hgvs_p": "p.Glu663Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000253692.6",
"strand": false,
"transcript": "ENST00000253692.11",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 795,
"aa_ref": "E",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3156,
"cdna_start": 2164,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1987,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000429383.8",
"gene_hgnc_id": 19166,
"gene_symbol": "TBC1D5",
"hgvs_c": "c.1987G>A",
"hgvs_p": "p.Glu663Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398127.4",
"strand": false,
"transcript": "ENST00000429383.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 817,
"aa_ref": "E",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6513,
"cdna_start": 2317,
"cds_end": null,
"cds_length": 2454,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001134381.2",
"gene_hgnc_id": 19166,
"gene_symbol": "TBC1D5",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Glu685Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001127853.1",
"strand": false,
"transcript": "NM_001134381.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 817,
"aa_ref": "E",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6435,
"cdna_start": 2239,
"cds_end": null,
"cds_length": 2454,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001349073.2",
"gene_hgnc_id": 19166,
"gene_symbol": "TBC1D5",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Glu685Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336002.1",
"strand": false,
"transcript": "NM_001349073.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 817,
"aa_ref": "E",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6529,
"cdna_start": 2333,
"cds_end": null,
"cds_length": 2454,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001349075.2",
"gene_hgnc_id": 19166,
"gene_symbol": "TBC1D5",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Glu685Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336004.1",
"strand": false,
"transcript": "NM_001349075.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 817,
"aa_ref": "E",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6370,
"cdna_start": 2884,
"cds_end": null,
"cds_length": 2454,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000907031.1",
"gene_hgnc_id": 19166,
"gene_symbol": "TBC1D5",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Glu685Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577090.1",
"strand": false,
"transcript": "ENST00000907031.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 817,
"aa_ref": "E",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3352,
"cdna_start": 2360,
"cds_end": null,
"cds_length": 2454,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000907038.1",
"gene_hgnc_id": 19166,
"gene_symbol": "TBC1D5",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Glu685Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577097.1",
"strand": false,
"transcript": "ENST00000907038.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 817,
"aa_ref": "E",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3359,
"cdna_start": 2367,
"cds_end": null,
"cds_length": 2454,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000907046.1",
"gene_hgnc_id": 19166,
"gene_symbol": "TBC1D5",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Glu685Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577105.1",
"strand": false,
"transcript": "ENST00000907046.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 817,
"aa_ref": "E",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3544,
"cdna_start": 2570,
"cds_end": null,
"cds_length": 2454,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000907048.1",
"gene_hgnc_id": 19166,
"gene_symbol": "TBC1D5",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Glu685Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577107.1",
"strand": false,
"transcript": "ENST00000907048.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 817,
"aa_ref": "E",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6701,
"cdna_start": 2508,
"cds_end": null,
"cds_length": 2454,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000965798.1",
"gene_hgnc_id": 19166,
"gene_symbol": "TBC1D5",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Glu685Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635857.1",
"strand": false,
"transcript": "ENST00000965798.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 817,
"aa_ref": "E",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6349,
"cdna_start": 2158,
"cds_end": null,
"cds_length": 2454,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000965814.1",
"gene_hgnc_id": 19166,
"gene_symbol": "TBC1D5",
"hgvs_c": "c.2053G>A",
"hgvs_p": "p.Glu685Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635873.1",
"strand": false,
"transcript": "ENST00000965814.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 816,
"aa_ref": "E",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3245,
"cdna_start": 2253,
"cds_end": null,
"cds_length": 2451,
"cds_start": 2050,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000907047.1",
"gene_hgnc_id": 19166,
"gene_symbol": "TBC1D5",
"hgvs_c": "c.2050G>A",
"hgvs_p": "p.Glu684Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577106.1",
"strand": false,
"transcript": "ENST00000907047.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 802,
"aa_ref": "E",
"aa_start": 670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6487,
"cdna_start": 2291,
"cds_end": null,
"cds_length": 2409,
"cds_start": 2008,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001349081.2",
"gene_hgnc_id": 19166,
"gene_symbol": "TBC1D5",
"hgvs_c": "c.2008G>A",
"hgvs_p": "p.Glu670Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336010.1",
"strand": false,
"transcript": "NM_001349081.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 795,
"aa_ref": "E",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6530,
"cdna_start": 2334,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1987,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001349076.2",
"gene_hgnc_id": 19166,
"gene_symbol": "TBC1D5",
"hgvs_c": "c.1987G>A",
"hgvs_p": "p.Glu663Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336005.1",
"strand": false,
"transcript": "NM_001349076.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 795,
"aa_ref": "E",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6493,
"cdna_start": 2297,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1987,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001349077.2",
"gene_hgnc_id": 19166,
"gene_symbol": "TBC1D5",
"hgvs_c": "c.1987G>A",
"hgvs_p": "p.Glu663Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336006.1",
"strand": false,
"transcript": "NM_001349077.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 795,
"aa_ref": "E",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6434,
"cdna_start": 2238,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1987,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001349078.2",
"gene_hgnc_id": 19166,
"gene_symbol": "TBC1D5",
"hgvs_c": "c.1987G>A",
"hgvs_p": "p.Glu663Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336007.1",
"strand": false,
"transcript": "NM_001349078.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 795,
"aa_ref": "E",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6639,
"cdna_start": 2443,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1987,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001349079.2",
"gene_hgnc_id": 19166,
"gene_symbol": "TBC1D5",
"hgvs_c": "c.1987G>A",
"hgvs_p": "p.Glu663Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336008.1",
"strand": false,
"transcript": "NM_001349079.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
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]
}