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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: 17-5106268-GGG-TAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=5106268&ref=GGG&alt=TAA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF232",
"hgnc_id": 13026,
"hgvs_c": "c.889_891delCCCinsTTA",
"hgvs_p": "p.Pro297Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_014519.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ZNF232-AS1",
"hgnc_id": 40623,
"hgvs_c": "n.259-5071_259-5069delGGGinsTAA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000413077.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 444,
"aa_ref": "P",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1479,
"cdna_start": 947,
"cds_end": null,
"cds_length": 1335,
"cds_start": 889,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014519.6",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.889_891delCCCinsTTA",
"hgvs_p": "p.Pro297Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000250076.8",
"protein_coding": true,
"protein_id": "NP_055334.2",
"strand": false,
"transcript": "NM_014519.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 444,
"aa_ref": "P",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1479,
"cdna_start": 947,
"cds_end": null,
"cds_length": 1335,
"cds_start": 889,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000250076.8",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.889_891delCCCinsTTA",
"hgvs_p": "p.Pro297Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014519.6",
"protein_coding": true,
"protein_id": "ENSP00000250076.3",
"strand": false,
"transcript": "ENST00000250076.8",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 435,
"aa_ref": "P",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1610,
"cdna_start": 883,
"cds_end": null,
"cds_length": 1308,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000575898.5",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.862_864delCCCinsTTA",
"hgvs_p": "p.Pro288Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461305.1",
"strand": false,
"transcript": "ENST00000575898.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 480,
"aa_ref": "P",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1587,
"cdna_start": 1055,
"cds_end": null,
"cds_length": 1443,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895122.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.997_999delCCCinsTTA",
"hgvs_p": "p.Pro333Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565181.1",
"strand": false,
"transcript": "ENST00000895122.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 471,
"aa_ref": "P",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1550,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 1416,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895124.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.970_972delCCCinsTTA",
"hgvs_p": "p.Pro324Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565183.1",
"strand": false,
"transcript": "ENST00000895124.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 443,
"aa_ref": "P",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1481,
"cdna_start": 944,
"cds_end": null,
"cds_length": 1332,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916914.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.886_888delCCCinsTTA",
"hgvs_p": "p.Pro296Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586973.1",
"strand": false,
"transcript": "ENST00000916914.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 435,
"aa_ref": "P",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1850,
"cdna_start": 1316,
"cds_end": null,
"cds_length": 1308,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001320952.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.862_864delCCCinsTTA",
"hgvs_p": "p.Pro288Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307881.1",
"strand": false,
"transcript": "NM_001320952.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 432,
"aa_ref": "P",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1435,
"cdna_start": 903,
"cds_end": null,
"cds_length": 1299,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895123.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.853_855delCCCinsTTA",
"hgvs_p": "p.Pro285Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565182.1",
"strand": false,
"transcript": "ENST00000895123.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 417,
"aa_ref": "P",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2236,
"cdna_start": 1704,
"cds_end": null,
"cds_length": 1254,
"cds_start": 808,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001320953.2",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.808_810delCCCinsTTA",
"hgvs_p": "p.Pro270Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307882.1",
"strand": false,
"transcript": "NM_001320953.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 417,
"aa_ref": "P",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2107,
"cdna_start": 1575,
"cds_end": null,
"cds_length": 1254,
"cds_start": 808,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001320954.2",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.808_810delCCCinsTTA",
"hgvs_p": "p.Pro270Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307883.1",
"strand": false,
"transcript": "NM_001320954.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 416,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 1251,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001320955.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.805_807delCCCinsTTA",
"hgvs_p": "p.Pro269Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307884.1",
"strand": false,
"transcript": "NM_001320955.1",
"transcript_support_level": null
},
{
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"aa_length": 416,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1875,
"cdna_start": 876,
"cds_end": null,
"cds_length": 1251,
"cds_start": 805,
"consequences": [
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],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000696535.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.805_807delCCCinsTTA",
"hgvs_p": "p.Pro269Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512696.1",
"strand": false,
"transcript": "ENST00000696535.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1596,
"cdna_start": 1064,
"cds_end": null,
"cds_length": 1227,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001395551.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.781_783delCCCinsTTA",
"hgvs_p": "p.Pro261Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382480.1",
"strand": false,
"transcript": "NM_001395551.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 407,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1379,
"cdna_start": 849,
"cds_end": null,
"cds_length": 1224,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895121.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.778_780delCCCinsTTA",
"hgvs_p": "p.Pro260Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565180.1",
"strand": false,
"transcript": "ENST00000895121.1",
"transcript_support_level": null
},
{
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"aa_length": 396,
"aa_ref": "P",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1379,
"cdna_start": 847,
"cds_end": null,
"cds_length": 1191,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438840.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.745_747delCCCinsTTA",
"hgvs_p": "p.Pro249Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425769.1",
"strand": false,
"transcript": "NM_001438840.1",
"transcript_support_level": null
},
{
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"aa_length": 396,
"aa_ref": "P",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1335,
"cdna_start": 821,
"cds_end": null,
"cds_length": 1191,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000696536.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.745_747delCCCinsTTA",
"hgvs_p": "p.Pro249Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512697.1",
"strand": false,
"transcript": "ENST00000696536.1",
"transcript_support_level": null
},
{
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"aa_length": 368,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1439,
"cdna_start": 907,
"cds_end": null,
"cds_length": 1107,
"cds_start": 661,
"consequences": [
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],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001395552.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.661_663delCCCinsTTA",
"hgvs_p": "p.Pro221Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382481.1",
"strand": false,
"transcript": "NM_001395552.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1412,
"cdna_start": 880,
"cds_end": null,
"cds_length": 1080,
"cds_start": 634,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001395550.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.634_636delCCCinsTTA",
"hgvs_p": "p.Pro212Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382479.1",
"strand": false,
"transcript": "NM_001395550.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1016,
"cdna_start": 484,
"cds_end": null,
"cds_length": 864,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916913.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.418_420delCCCinsTTA",
"hgvs_p": "p.Pro140Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586972.1",
"strand": false,
"transcript": "ENST00000916913.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 444,
"aa_ref": "P",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": 1483,
"cds_end": null,
"cds_length": 1335,
"cds_start": 889,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436668.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.889_891delCCCinsTTA",
"hgvs_p": "p.Pro297Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292624.1",
"strand": false,
"transcript": "XM_047436668.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 444,
"aa_ref": "P",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2094,
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]
}