← 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: 12-6667774-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6667774&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF384",
"hgnc_id": 11955,
"hgvs_c": "c.1767G>C",
"hgvs_p": "p.Lys589Asn",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001385743.1",
"verdict": "Likely_benign"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000219410",
"hgnc_id": null,
"hgvs_c": "n.385C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000586338.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 15,
"alphamissense_prediction": null,
"alphamissense_score": 0.8502,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "12",
"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": 0.7344598174095154,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 608,
"aa_ref": "K",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3407,
"cdna_start": 2110,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1767,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001385745.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1767G>C",
"hgvs_p": "p.Lys589Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000683879.1",
"protein_coding": true,
"protein_id": "NP_001372674.1",
"strand": false,
"transcript": "NM_001385745.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 608,
"aa_ref": "K",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3407,
"cdna_start": 2110,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1767,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000683879.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1767G>C",
"hgvs_p": "p.Lys589Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001385745.1",
"protein_coding": true,
"protein_id": "ENSP00000507462.1",
"strand": false,
"transcript": "ENST00000683879.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 461,
"aa_ref": "K",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2514,
"cdna_start": 1478,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1326,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000355772.8",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1326G>C",
"hgvs_p": "p.Lys442Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348018.4",
"strand": false,
"transcript": "ENST00000355772.8",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 625,
"aa_ref": "K",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3407,
"cdna_start": 2110,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1818,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000710399.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1818G>C",
"hgvs_p": "p.Lys606Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518253.1",
"strand": false,
"transcript": "ENST00000710399.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 608,
"aa_ref": "K",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3334,
"cdna_start": 2037,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1767,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001385743.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1767G>C",
"hgvs_p": "p.Lys589Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372672.1",
"strand": false,
"transcript": "NM_001385743.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 608,
"aa_ref": "K",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3668,
"cdna_start": 2371,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1767,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001385744.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1767G>C",
"hgvs_p": "p.Lys589Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372673.1",
"strand": false,
"transcript": "NM_001385744.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 608,
"aa_ref": "K",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3403,
"cdna_start": 2106,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1767,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001385746.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1767G>C",
"hgvs_p": "p.Lys589Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372675.1",
"strand": false,
"transcript": "NM_001385746.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 608,
"aa_ref": "K",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4278,
"cdna_start": 2981,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1767,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001385747.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1767G>C",
"hgvs_p": "p.Lys589Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372676.1",
"strand": false,
"transcript": "NM_001385747.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 592,
"aa_ref": "K",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3359,
"cdna_start": 2062,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1719,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001385748.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1719G>C",
"hgvs_p": "p.Lys573Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372677.1",
"strand": false,
"transcript": "NM_001385748.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 592,
"aa_ref": "K",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4230,
"cdna_start": 2933,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1719,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385749.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1719G>C",
"hgvs_p": "p.Lys573Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372678.1",
"strand": false,
"transcript": "NM_001385749.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 577,
"aa_ref": "K",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3241,
"cdna_start": 1944,
"cds_end": null,
"cds_length": 1734,
"cds_start": 1674,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001135734.3",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1674G>C",
"hgvs_p": "p.Lys558Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129206.1",
"strand": false,
"transcript": "NM_001135734.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 577,
"aa_ref": "K",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3575,
"cdna_start": 2278,
"cds_end": null,
"cds_length": 1734,
"cds_start": 1674,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001385750.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1674G>C",
"hgvs_p": "p.Lys558Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372679.1",
"strand": false,
"transcript": "NM_001385750.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 577,
"aa_ref": "K",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3418,
"cdna_start": 2121,
"cds_end": null,
"cds_length": 1734,
"cds_start": 1674,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001385751.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1674G>C",
"hgvs_p": "p.Lys558Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372680.1",
"strand": false,
"transcript": "NM_001385751.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 577,
"aa_ref": "K",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3314,
"cdna_start": 2017,
"cds_end": null,
"cds_length": 1734,
"cds_start": 1674,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001385752.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1674G>C",
"hgvs_p": "p.Lys558Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372681.1",
"strand": false,
"transcript": "NM_001385752.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 577,
"aa_ref": "K",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3432,
"cdna_start": 2135,
"cds_end": null,
"cds_length": 1734,
"cds_start": 1674,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001385753.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1674G>C",
"hgvs_p": "p.Lys558Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372682.1",
"strand": false,
"transcript": "NM_001385753.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 577,
"aa_ref": "K",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3959,
"cdna_start": 2662,
"cds_end": null,
"cds_length": 1734,
"cds_start": 1674,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001385754.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1674G>C",
"hgvs_p": "p.Lys558Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372683.1",
"strand": false,
"transcript": "NM_001385754.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 577,
"aa_ref": "K",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4181,
"cdna_start": 2884,
"cds_end": null,
"cds_length": 1734,
"cds_start": 1674,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385755.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1674G>C",
"hgvs_p": "p.Lys558Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372684.1",
"strand": false,
"transcript": "NM_001385755.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 577,
"aa_ref": "K",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3237,
"cdna_start": 1940,
"cds_end": null,
"cds_length": 1734,
"cds_start": 1674,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001385756.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1674G>C",
"hgvs_p": "p.Lys558Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372685.1",
"strand": false,
"transcript": "NM_001385756.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 577,
"aa_ref": "K",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3709,
"cdna_start": 2412,
"cds_end": null,
"cds_length": 1734,
"cds_start": 1674,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001385757.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1674G>C",
"hgvs_p": "p.Lys558Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372686.1",
"strand": false,
"transcript": "NM_001385757.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 577,
"aa_ref": "K",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2978,
"cdna_start": 1934,
"cds_end": null,
"cds_length": 1734,
"cds_start": 1674,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000361959.7",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1674G>C",
"hgvs_p": "p.Lys558Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354592.3",
"strand": false,
"transcript": "ENST00000361959.7",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 577,
"aa_ref": "K",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3008,
"cdna_start": 1882,
"cds_end": null,
"cds_length": 1734,
"cds_start": 1674,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000396801.7",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1674G>C",
"hgvs_p": "p.Lys558Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380019.3",
"strand": false,
"transcript": "ENST00000396801.7",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 561,
"aa_ref": "K",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3266,
"cdna_start": 1969,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1626,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385758.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1626G>C",
"hgvs_p": "p.Lys542Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372687.1",
"strand": false,
"transcript": "NM_001385758.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 561,
"aa_ref": "K",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3193,
"cdna_start": 1896,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1626,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385759.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1626G>C",
"hgvs_p": "p.Lys542Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372688.1",
"strand": false,
"transcript": "NM_001385759.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 561,
"aa_ref": "K",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3452,
"cdna_start": 2155,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1626,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001385760.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1626G>C",
"hgvs_p": "p.Lys542Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372689.1",
"strand": false,
"transcript": "NM_001385760.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 561,
"aa_ref": "K",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3527,
"cdna_start": 2230,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1626,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385761.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1626G>C",
"hgvs_p": "p.Lys542Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372690.1",
"strand": false,
"transcript": "NM_001385761.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 553,
"aa_ref": "K",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3238,
"cdna_start": 1941,
"cds_end": null,
"cds_length": 1662,
"cds_start": 1602,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001385762.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1602G>C",
"hgvs_p": "p.Lys534Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372691.1",
"strand": false,
"transcript": "NM_001385762.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 547,
"aa_ref": "K",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3619,
"cdna_start": 2322,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1584,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001385763.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1584G>C",
"hgvs_p": "p.Lys528Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372692.1",
"strand": false,
"transcript": "NM_001385763.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 547,
"aa_ref": "K",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3224,
"cdna_start": 1927,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1584,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001385764.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1584G>C",
"hgvs_p": "p.Lys528Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372693.1",
"strand": false,
"transcript": "NM_001385764.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 547,
"aa_ref": "K",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4095,
"cdna_start": 2798,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1584,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385765.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1584G>C",
"hgvs_p": "p.Lys528Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372694.1",
"strand": false,
"transcript": "NM_001385765.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 547,
"aa_ref": "K",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3151,
"cdna_start": 1854,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1584,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001385766.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1584G>C",
"hgvs_p": "p.Lys528Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372695.1",
"strand": false,
"transcript": "NM_001385766.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 547,
"aa_ref": "K",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4091,
"cdna_start": 2794,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1584,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385767.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1584G>C",
"hgvs_p": "p.Lys528Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372696.1",
"strand": false,
"transcript": "NM_001385767.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 531,
"aa_ref": "K",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4047,
"cdna_start": 2750,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1536,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001385768.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1536G>C",
"hgvs_p": "p.Lys512Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372697.1",
"strand": false,
"transcript": "NM_001385768.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 531,
"aa_ref": "K",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3176,
"cdna_start": 1879,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1536,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385769.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1536G>C",
"hgvs_p": "p.Lys512Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372698.1",
"strand": false,
"transcript": "NM_001385769.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 531,
"aa_ref": "K",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3821,
"cdna_start": 2524,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1536,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385770.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1536G>C",
"hgvs_p": "p.Lys512Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372699.1",
"strand": false,
"transcript": "NM_001385770.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 524,
"aa_ref": "K",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": 1858,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1515,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385771.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1515G>C",
"hgvs_p": "p.Lys505Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372700.1",
"strand": false,
"transcript": "NM_001385771.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 522,
"aa_ref": "K",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 1779,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1509,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385772.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1509G>C",
"hgvs_p": "p.Lys503Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372701.1",
"strand": false,
"transcript": "NM_001385772.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4002,
"cdna_start": 2705,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1491,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001385739.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1491G>C",
"hgvs_p": "p.Lys497Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372668.1",
"strand": false,
"transcript": "NM_001385739.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3058,
"cdna_start": 1761,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1491,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385740.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1491G>C",
"hgvs_p": "p.Lys497Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372669.1",
"strand": false,
"transcript": "NM_001385740.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3526,
"cdna_start": 2229,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1491,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385773.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1491G>C",
"hgvs_p": "p.Lys497Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372702.1",
"strand": false,
"transcript": "NM_001385773.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3998,
"cdna_start": 2701,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1491,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001385774.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1491G>C",
"hgvs_p": "p.Lys497Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372703.1",
"strand": false,
"transcript": "NM_001385774.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": 1701,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1491,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001385775.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1491G>C",
"hgvs_p": "p.Lys497Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372704.1",
"strand": false,
"transcript": "NM_001385775.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3392,
"cdna_start": 2095,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1491,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385776.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1491G>C",
"hgvs_p": "p.Lys497Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372705.1",
"strand": false,
"transcript": "NM_001385776.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3127,
"cdna_start": 1830,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1491,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385777.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1491G>C",
"hgvs_p": "p.Lys497Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372706.1",
"strand": false,
"transcript": "NM_001385777.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3776,
"cdna_start": 2479,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1491,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385778.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1491G>C",
"hgvs_p": "p.Lys497Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372707.1",
"strand": false,
"transcript": "NM_001385778.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3772,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1491,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385779.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1491G>C",
"hgvs_p": "p.Lys497Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372708.1",
"strand": false,
"transcript": "NM_001385779.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": 1858,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1491,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001385780.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1491G>C",
"hgvs_p": "p.Lys497Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372709.1",
"strand": false,
"transcript": "NM_001385780.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3235,
"cdna_start": 1938,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1491,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385781.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1491G>C",
"hgvs_p": "p.Lys497Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372710.1",
"strand": false,
"transcript": "NM_001385781.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3285,
"cdna_start": 1988,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1491,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001385782.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1491G>C",
"hgvs_p": "p.Lys497Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372711.1",
"strand": false,
"transcript": "NM_001385782.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3502,
"cdna_start": 2205,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1491,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385783.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1491G>C",
"hgvs_p": "p.Lys497Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372712.1",
"strand": false,
"transcript": "NM_001385783.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3197,
"cdna_start": 1900,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1491,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385784.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1491G>C",
"hgvs_p": "p.Lys497Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372713.1",
"strand": false,
"transcript": "NM_001385784.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3054,
"cdna_start": 1757,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1491,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385785.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1491G>C",
"hgvs_p": "p.Lys497Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372714.1",
"strand": false,
"transcript": "NM_001385785.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3522,
"cdna_start": 2225,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1491,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385786.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1491G>C",
"hgvs_p": "p.Lys497Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372715.1",
"strand": false,
"transcript": "NM_001385786.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3131,
"cdna_start": 1834,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1491,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_133476.5",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1491G>C",
"hgvs_p": "p.Lys497Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_597733.2",
"strand": false,
"transcript": "NM_133476.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 516,
"aa_ref": "K",
"aa_start": 497,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3266,
"cdna_start": 1969,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1491,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000319770.7",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1491G>C",
"hgvs_p": "p.Lys497Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000321650.4",
"strand": false,
"transcript": "ENST00000319770.7",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 500,
"aa_ref": "K",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3083,
"cdna_start": 1786,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1443,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001385741.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1443G>C",
"hgvs_p": "p.Lys481Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372670.1",
"strand": false,
"transcript": "NM_001385741.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 500,
"aa_ref": "K",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3010,
"cdna_start": 1713,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1443,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001385742.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1443G>C",
"hgvs_p": "p.Lys481Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372671.1",
"strand": false,
"transcript": "NM_001385742.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 500,
"aa_ref": "K",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3478,
"cdna_start": 2181,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1443,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001385787.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1443G>C",
"hgvs_p": "p.Lys481Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372716.1",
"strand": false,
"transcript": "NM_001385787.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 500,
"aa_ref": "K",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3954,
"cdna_start": 2657,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1443,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001385788.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1443G>C",
"hgvs_p": "p.Lys481Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372717.1",
"strand": false,
"transcript": "NM_001385788.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 500,
"aa_ref": "K",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3187,
"cdna_start": 1890,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1443,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001385789.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1443G>C",
"hgvs_p": "p.Lys481Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372718.1",
"strand": false,
"transcript": "NM_001385789.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 500,
"aa_ref": "K",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3079,
"cdna_start": 1782,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1443,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001385790.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1443G>C",
"hgvs_p": "p.Lys481Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372719.1",
"strand": false,
"transcript": "NM_001385790.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 500,
"aa_ref": "K",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3006,
"cdna_start": 1709,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1443,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001385791.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1443G>C",
"hgvs_p": "p.Lys481Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372720.1",
"strand": false,
"transcript": "NM_001385791.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 500,
"aa_ref": "K",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3023,
"cdna_start": 1726,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1443,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001385792.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1443G>C",
"hgvs_p": "p.Lys481Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372721.1",
"strand": false,
"transcript": "NM_001385792.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 500,
"aa_ref": "K",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3237,
"cdna_start": 1940,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1443,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385793.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1443G>C",
"hgvs_p": "p.Lys481Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372722.1",
"strand": false,
"transcript": "NM_001385793.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 500,
"aa_ref": "K",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3454,
"cdna_start": 2157,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1443,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001385794.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1443G>C",
"hgvs_p": "p.Lys481Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372723.1",
"strand": false,
"transcript": "NM_001385794.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 500,
"aa_ref": "K",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3344,
"cdna_start": 2047,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1443,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001385795.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1443G>C",
"hgvs_p": "p.Lys481Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372724.1",
"strand": false,
"transcript": "NM_001385795.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 477,
"aa_ref": "K",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3132,
"cdna_start": 1835,
"cds_end": null,
"cds_length": 1434,
"cds_start": 1374,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001385796.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1374G>C",
"hgvs_p": "p.Lys458Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372725.1",
"strand": false,
"transcript": "NM_001385796.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 468,
"aa_ref": "K",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2914,
"cdna_start": 1617,
"cds_end": null,
"cds_length": 1407,
"cds_start": 1347,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001385797.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1347G>C",
"hgvs_p": "p.Lys449Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372726.1",
"strand": false,
"transcript": "NM_001385797.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 461,
"aa_ref": "K",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2893,
"cdna_start": 1596,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1326,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001039920.3",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1326G>C",
"hgvs_p": "p.Lys442Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035009.1",
"strand": false,
"transcript": "NM_001039920.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 461,
"aa_ref": "K",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2966,
"cdna_start": 1669,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1326,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001385798.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1326G>C",
"hgvs_p": "p.Lys442Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372727.1",
"strand": false,
"transcript": "NM_001385798.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 461,
"aa_ref": "K",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3009,
"cdna_start": 1712,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1326,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001385799.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1326G>C",
"hgvs_p": "p.Lys442Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372728.1",
"strand": false,
"transcript": "NM_001385799.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 461,
"aa_ref": "K",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3070,
"cdna_start": 1773,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1326,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001385800.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1326G>C",
"hgvs_p": "p.Lys442Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372729.1",
"strand": false,
"transcript": "NM_001385800.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 447,
"aa_ref": "K",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2851,
"cdna_start": 1554,
"cds_end": null,
"cds_length": 1344,
"cds_start": 1284,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001385801.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1284G>C",
"hgvs_p": "p.Lys428Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372730.1",
"strand": false,
"transcript": "NM_001385801.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 158,
"aa_ref": "K",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 500,
"cdna_start": 418,
"cds_end": null,
"cds_length": 477,
"cds_start": 417,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000545946.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.417G>C",
"hgvs_p": "p.Lys139Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473311.1",
"strand": false,
"transcript": "ENST00000545946.1",
"transcript_support_level": 3
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 608,
"aa_ref": "K",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4052,
"cdna_start": 2755,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1767,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011520917.3",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1767G>C",
"hgvs_p": "p.Lys589Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519219.1",
"strand": false,
"transcript": "XM_011520917.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 608,
"aa_ref": "K",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3802,
"cdna_start": 2505,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1767,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011520919.3",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1767G>C",
"hgvs_p": "p.Lys589Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519221.1",
"strand": false,
"transcript": "XM_011520919.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 608,
"aa_ref": "K",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3511,
"cdna_start": 2214,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1767,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047428467.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1767G>C",
"hgvs_p": "p.Lys589Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284423.1",
"strand": false,
"transcript": "XM_047428467.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 592,
"aa_ref": "K",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3286,
"cdna_start": 1989,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1719,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011520922.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1719G>C",
"hgvs_p": "p.Lys573Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519224.1",
"strand": false,
"transcript": "XM_011520922.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 561,
"aa_ref": "K",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3911,
"cdna_start": 2614,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1626,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047428468.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1626G>C",
"hgvs_p": "p.Lys542Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284424.1",
"strand": false,
"transcript": "XM_047428468.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 547,
"aa_ref": "K",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3869,
"cdna_start": 2572,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1584,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047428469.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1584G>C",
"hgvs_p": "p.Lys528Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284425.1",
"strand": false,
"transcript": "XM_047428469.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 547,
"aa_ref": "K",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3485,
"cdna_start": 2188,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1584,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047428470.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1584G>C",
"hgvs_p": "p.Lys528Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284426.1",
"strand": false,
"transcript": "XM_047428470.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 547,
"aa_ref": "K",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3328,
"cdna_start": 2031,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1584,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047428471.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1584G>C",
"hgvs_p": "p.Lys528Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284427.1",
"strand": false,
"transcript": "XM_047428471.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 531,
"aa_ref": "K",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3103,
"cdna_start": 1806,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1536,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047428472.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1536G>C",
"hgvs_p": "p.Lys512Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284428.1",
"strand": false,
"transcript": "XM_047428472.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 531,
"aa_ref": "K",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3437,
"cdna_start": 2140,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1536,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047428473.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1536G>C",
"hgvs_p": "p.Lys512Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284429.1",
"strand": false,
"transcript": "XM_047428473.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 500,
"aa_ref": "K",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3728,
"cdna_start": 2431,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1443,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047428474.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.1443G>C",
"hgvs_p": "p.Lys481Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284430.1",
"strand": false,
"transcript": "XM_047428474.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 346,
"aa_ref": "K",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2438,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 1041,
"cds_start": 981,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_006718969.4",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "c.981G>C",
"hgvs_p": "p.Lys327Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006719032.1",
"strand": false,
"transcript": "XM_006718969.4",
"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": 1361,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000586338.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000219410",
"hgvs_c": "n.385C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000586338.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4160,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NR_169758.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "n.2863G>C",
"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": "NR_169758.1",
"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": 3289,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NR_169759.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "n.1992G>C",
"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": "NR_169759.1",
"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": 4067,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NR_169760.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "n.2770G>C",
"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": "NR_169760.1",
"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": 3550,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NR_169761.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "n.2253G>C",
"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": "NR_169761.1",
"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": 3148,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NR_169762.1",
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"hgvs_c": "n.1851G>C",
"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": "NR_169762.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1189955002",
"effect": "missense_variant",
"frequency_reference_population": 0.0000102606755,
"gene_hgnc_id": 11955,
"gene_symbol": "ZNF384",
"gnomad_exomes_ac": 15,
"gnomad_exomes_af": 0.0000102607,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"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": "Benign",
"phylop100way_score": 1.539,
"pos": 6667774,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.34,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.03999999910593033,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.04,
"transcript": "NM_001385743.1"
}
]
}