← Back to variant description
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: 17-5106269-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=5106269&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF232",
"hgnc_id": 13026,
"hgvs_c": "c.890C>T",
"hgvs_p": "p.Pro297Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_014519.6",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ZNF232-AS1",
"hgnc_id": 40623,
"hgvs_c": "n.259-5070G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "ENST00000413077.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 172,
"alphamissense_prediction": null,
"alphamissense_score": 0.3912,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.12681695818901062,
"computational_source_selected": "MetaRNN",
"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": 946,
"cds_end": null,
"cds_length": 1335,
"cds_start": 890,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_014519.6",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.890C>T",
"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": 946,
"cds_end": null,
"cds_length": 1335,
"cds_start": 890,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000250076.8",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.890C>T",
"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": 882,
"cds_end": null,
"cds_length": 1308,
"cds_start": 863,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000575898.5",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.863C>T",
"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": 1054,
"cds_end": null,
"cds_length": 1443,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895122.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.998C>T",
"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": 1019,
"cds_end": null,
"cds_length": 1416,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895124.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.971C>T",
"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": 943,
"cds_end": null,
"cds_length": 1332,
"cds_start": 887,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000916914.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.887C>T",
"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": 1315,
"cds_end": null,
"cds_length": 1308,
"cds_start": 863,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001320952.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.863C>T",
"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": 902,
"cds_end": null,
"cds_length": 1299,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895123.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.854C>T",
"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
},
{
"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": 2236,
"cdna_start": 1703,
"cds_end": null,
"cds_length": 1254,
"cds_start": 809,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001320953.2",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.809C>T",
"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": 1574,
"cds_end": null,
"cds_length": 1254,
"cds_start": 809,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001320954.2",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.809C>T",
"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",
"aa_end": null,
"aa_length": 416,
"aa_ref": "P",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": 1258,
"cds_end": null,
"cds_length": 1251,
"cds_start": 806,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001320955.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.806C>T",
"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
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 416,
"aa_ref": "P",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1875,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1251,
"cds_start": 806,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000696535.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.806C>T",
"hgvs_p": "p.Pro269Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512696.1",
"strand": false,
"transcript": "ENST00000696535.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 408,
"aa_ref": "P",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1596,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 1227,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001395551.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.782C>T",
"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",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1379,
"cdna_start": 848,
"cds_end": null,
"cds_length": 1224,
"cds_start": 779,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895121.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.779C>T",
"hgvs_p": "p.Pro260Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565180.1",
"strand": false,
"transcript": "ENST00000895121.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 396,
"aa_ref": "P",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1379,
"cdna_start": 846,
"cds_end": null,
"cds_length": 1191,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001438840.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.746C>T",
"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
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 396,
"aa_ref": "P",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1335,
"cdna_start": 820,
"cds_end": null,
"cds_length": 1191,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000696536.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.746C>T",
"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
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 368,
"aa_ref": "P",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1439,
"cdna_start": 906,
"cds_end": null,
"cds_length": 1107,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001395552.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Pro221Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382481.1",
"strand": false,
"transcript": "NM_001395552.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "P",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1412,
"cdna_start": 879,
"cds_end": null,
"cds_length": 1080,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001395550.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.635C>T",
"hgvs_p": "p.Pro212Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382479.1",
"strand": false,
"transcript": "NM_001395550.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 287,
"aa_ref": "P",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1016,
"cdna_start": 483,
"cds_end": null,
"cds_length": 864,
"cds_start": 419,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000916913.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.419C>T",
"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": 1482,
"cds_end": null,
"cds_length": 1335,
"cds_start": 890,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047436668.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.890C>T",
"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,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 1335,
"cds_start": 890,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047436669.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.890C>T",
"hgvs_p": "p.Pro297Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292625.1",
"strand": false,
"transcript": "XM_047436669.1",
"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": 1965,
"cdna_start": 1430,
"cds_end": null,
"cds_length": 1335,
"cds_start": 890,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047436670.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.890C>T",
"hgvs_p": "p.Pro297Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292626.1",
"strand": false,
"transcript": "XM_047436670.1",
"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": 1542,
"cdna_start": 1007,
"cds_end": null,
"cds_length": 1254,
"cds_start": 809,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047436671.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.809C>T",
"hgvs_p": "p.Pro270Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292627.1",
"strand": false,
"transcript": "XM_047436671.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 396,
"aa_ref": "P",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1446,
"cdna_start": 911,
"cds_end": null,
"cds_length": 1191,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011524006.4",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.746C>T",
"hgvs_p": "p.Pro249Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522308.1",
"strand": false,
"transcript": "XM_011524006.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 387,
"aa_ref": "P",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1750,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1164,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047436673.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Pro240Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292629.1",
"strand": false,
"transcript": "XM_047436673.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 368,
"aa_ref": "P",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1910,
"cdna_start": 1375,
"cds_end": null,
"cds_length": 1107,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047436674.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Pro221Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292630.1",
"strand": false,
"transcript": "XM_047436674.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2384,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000570486.5",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "n.*1222C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000458387.1",
"strand": false,
"transcript": "ENST00000570486.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 724,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000572468.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "n.687C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000572468.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2144,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000573015.6",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "n.*881C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000461267.1",
"strand": false,
"transcript": "ENST00000573015.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1907,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000574735.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "n.1373C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000574735.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1882,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000696407.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "n.1367C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000696407.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2049,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000696538.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "n.*881C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000512699.1",
"strand": false,
"transcript": "ENST00000696538.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2384,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000570486.5",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "n.*1222C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000458387.1",
"strand": false,
"transcript": "ENST00000570486.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2144,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000573015.6",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "n.*881C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000461267.1",
"strand": false,
"transcript": "ENST00000573015.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2049,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000696538.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "n.*881C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000512699.1",
"strand": false,
"transcript": "ENST00000696538.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1350,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000413077.4",
"gene_hgnc_id": 40623,
"gene_symbol": "ZNF232-AS1",
"hgvs_c": "n.259-5070G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000413077.4",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 772,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000571138.6",
"gene_hgnc_id": 40623,
"gene_symbol": "ZNF232-AS1",
"hgvs_c": "n.182-5070G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000571138.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1348,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000665679.4",
"gene_hgnc_id": 40623,
"gene_symbol": "ZNF232-AS1",
"hgvs_c": "n.279-5070G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000665679.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1279,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000843117.1",
"gene_hgnc_id": 40623,
"gene_symbol": "ZNF232-AS1",
"hgvs_c": "n.180-5070G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000843117.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 670,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000843118.1",
"gene_hgnc_id": 40623,
"gene_symbol": "ZNF232-AS1",
"hgvs_c": "n.182-5070G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000843118.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1236,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000843119.1",
"gene_hgnc_id": 40623,
"gene_symbol": "ZNF232-AS1",
"hgvs_c": "n.182-5070G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000843119.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1388,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000843120.1",
"gene_hgnc_id": 40623,
"gene_symbol": "ZNF232-AS1",
"hgvs_c": "n.405-5070G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000843120.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 762,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000843121.1",
"gene_hgnc_id": 40623,
"gene_symbol": "ZNF232-AS1",
"hgvs_c": "n.300-5070G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000843121.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 574,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000575538.1",
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"hgvs_c": "n.*564C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501080.1",
"strand": true,
"transcript": "ENST00000575538.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs201827182",
"effect": "missense_variant",
"frequency_reference_population": 0.000106561725,
"gene_hgnc_id": 13026,
"gene_symbol": "ZNF232",
"gnomad_exomes_ac": 165,
"gnomad_exomes_af": 0.000112868,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 7,
"gnomad_genomes_af": 0.0000459909,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.265,
"pos": 5106269,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.139,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_014519.6"
}
]
}