← 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: 3-183650375-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=183650375&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS1"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "KLHL24",
"hgnc_id": 25947,
"hgvs_c": "c.-948C>T",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001349428.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS1",
"acmg_score": -4,
"allele_count_reference_population": 42,
"alphamissense_prediction": null,
"alphamissense_score": 0.8595,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.21,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.43123796582221985,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7331,
"cdna_start": 314,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_017644.3",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000242810.11",
"protein_coding": true,
"protein_id": "NP_060114.2",
"strand": true,
"transcript": "NM_017644.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7331,
"cdna_start": 314,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000242810.11",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017644.3",
"protein_coding": true,
"protein_id": "ENSP00000242810.6",
"strand": true,
"transcript": "ENST00000242810.11",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7380,
"cdna_start": 405,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000454652.6",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395012.1",
"strand": true,
"transcript": "ENST00000454652.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 319,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7454,
"cdna_start": null,
"cds_end": null,
"cds_length": 960,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001349428.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.-948C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336357.1",
"strand": true,
"transcript": "NM_001349428.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 319,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7443,
"cdna_start": null,
"cds_end": null,
"cds_length": 960,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001349429.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.-948C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336358.1",
"strand": true,
"transcript": "NM_001349429.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 652,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2431,
"cdna_start": 314,
"cds_end": null,
"cds_length": 1959,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000943871.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613930.1",
"strand": true,
"transcript": "ENST00000943871.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 625,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7406,
"cdna_start": 314,
"cds_end": null,
"cds_length": 1878,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001349413.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336342.1",
"strand": true,
"transcript": "NM_001349413.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 625,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7388,
"cdna_start": 296,
"cds_end": null,
"cds_length": 1878,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001349414.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336343.1",
"strand": true,
"transcript": "NM_001349414.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 625,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7343,
"cdna_start": 251,
"cds_end": null,
"cds_length": 1878,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001349415.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336344.1",
"strand": true,
"transcript": "NM_001349415.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 625,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7360,
"cdna_start": 268,
"cds_end": null,
"cds_length": 1878,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001349416.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336345.1",
"strand": true,
"transcript": "NM_001349416.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 625,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7451,
"cdna_start": 359,
"cds_end": null,
"cds_length": 1878,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001349417.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336346.1",
"strand": true,
"transcript": "NM_001349417.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 625,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7497,
"cdna_start": 405,
"cds_end": null,
"cds_length": 1878,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001349418.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336347.1",
"strand": true,
"transcript": "NM_001349418.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 625,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7503,
"cdna_start": 411,
"cds_end": null,
"cds_length": 1878,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853856.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523915.1",
"strand": true,
"transcript": "ENST00000853856.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 625,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4656,
"cdna_start": 335,
"cds_end": null,
"cds_length": 1878,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000853858.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523917.1",
"strand": true,
"transcript": "ENST00000853858.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 625,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3167,
"cdna_start": 303,
"cds_end": null,
"cds_length": 1878,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000853866.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523925.1",
"strand": true,
"transcript": "ENST00000853866.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 625,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2335,
"cdna_start": 372,
"cds_end": null,
"cds_length": 1878,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853875.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523934.1",
"strand": true,
"transcript": "ENST00000853875.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 625,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7278,
"cdna_start": 230,
"cds_end": null,
"cds_length": 1878,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000943850.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613909.1",
"strand": true,
"transcript": "ENST00000943850.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 625,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4597,
"cdna_start": 617,
"cds_end": null,
"cds_length": 1878,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000943851.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613910.1",
"strand": true,
"transcript": "ENST00000943851.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 625,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4225,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1878,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000943856.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613915.1",
"strand": true,
"transcript": "ENST00000943856.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 625,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": 282,
"cds_end": null,
"cds_length": 1878,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000943873.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613932.1",
"strand": true,
"transcript": "ENST00000943873.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 623,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2348,
"cdna_start": 314,
"cds_end": null,
"cds_length": 1872,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000853872.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523931.1",
"strand": true,
"transcript": "ENST00000853872.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9121,
"cdna_start": 2104,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001349419.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336348.1",
"strand": true,
"transcript": "NM_001349419.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7376,
"cdna_start": 359,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001349420.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336349.1",
"strand": true,
"transcript": "NM_001349420.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7257,
"cdna_start": 240,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001349421.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336350.1",
"strand": true,
"transcript": "NM_001349421.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7313,
"cdna_start": 296,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001349422.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336351.1",
"strand": true,
"transcript": "NM_001349422.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7268,
"cdna_start": 251,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001349423.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336352.1",
"strand": true,
"transcript": "NM_001349423.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7359,
"cdna_start": 342,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001349424.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336353.1",
"strand": true,
"transcript": "NM_001349424.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7285,
"cdna_start": 268,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001349425.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336354.1",
"strand": true,
"transcript": "NM_001349425.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7222,
"cdna_start": 205,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001349426.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336355.1",
"strand": true,
"transcript": "NM_001349426.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4575,
"cdna_start": 316,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000853857.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523916.1",
"strand": true,
"transcript": "ENST00000853857.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4667,
"cdna_start": 665,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853859.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523918.1",
"strand": true,
"transcript": "ENST00000853859.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4196,
"cdna_start": 296,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000853860.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523919.1",
"strand": true,
"transcript": "ENST00000853860.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4130,
"cdna_start": 230,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000853861.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523920.1",
"strand": true,
"transcript": "ENST00000853861.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4280,
"cdna_start": 396,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853862.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523921.1",
"strand": true,
"transcript": "ENST00000853862.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4194,
"cdna_start": 755,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853863.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523922.1",
"strand": true,
"transcript": "ENST00000853863.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4906,
"cdna_start": 2117,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853864.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523923.1",
"strand": true,
"transcript": "ENST00000853864.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3497,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000853865.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523924.1",
"strand": true,
"transcript": "ENST00000853865.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3166,
"cdna_start": 372,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853867.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523926.1",
"strand": true,
"transcript": "ENST00000853867.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3248,
"cdna_start": 459,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853868.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523927.1",
"strand": true,
"transcript": "ENST00000853868.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2806,
"cdna_start": 435,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000853869.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523928.1",
"strand": true,
"transcript": "ENST00000853869.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2458,
"cdna_start": 467,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853870.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523929.1",
"strand": true,
"transcript": "ENST00000853870.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2271,
"cdna_start": 295,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853871.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523930.1",
"strand": true,
"transcript": "ENST00000853871.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2504,
"cdna_start": 528,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000853873.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523932.1",
"strand": true,
"transcript": "ENST00000853873.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2268,
"cdna_start": 380,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853874.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523933.1",
"strand": true,
"transcript": "ENST00000853874.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2166,
"cdna_start": 284,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853876.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523935.1",
"strand": true,
"transcript": "ENST00000853876.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3940,
"cdna_start": 501,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000853877.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523936.1",
"strand": true,
"transcript": "ENST00000853877.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3085,
"cdna_start": 733,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000921183.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591242.1",
"strand": true,
"transcript": "ENST00000921183.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7631,
"cdna_start": 619,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000943848.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613907.1",
"strand": true,
"transcript": "ENST00000943848.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7844,
"cdna_start": 832,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000943849.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613908.1",
"strand": true,
"transcript": "ENST00000943849.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4525,
"cdna_start": 649,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000943852.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613911.1",
"strand": true,
"transcript": "ENST00000943852.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3765,
"cdna_start": 323,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000943853.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613912.1",
"strand": true,
"transcript": "ENST00000943853.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3865,
"cdna_start": 424,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000943854.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613913.1",
"strand": true,
"transcript": "ENST00000943854.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3977,
"cdna_start": 534,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000943855.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613914.1",
"strand": true,
"transcript": "ENST00000943855.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3828,
"cdna_start": 386,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000943857.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613916.1",
"strand": true,
"transcript": "ENST00000943857.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4312,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000943858.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613917.1",
"strand": true,
"transcript": "ENST00000943858.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3998,
"cdna_start": 558,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000943859.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613918.1",
"strand": true,
"transcript": "ENST00000943859.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3752,
"cdna_start": 312,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000943860.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613919.1",
"strand": true,
"transcript": "ENST00000943860.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3230,
"cdna_start": 420,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000943861.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613920.1",
"strand": true,
"transcript": "ENST00000943861.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4883,
"cdna_start": 2073,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000943862.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613921.1",
"strand": true,
"transcript": "ENST00000943862.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3223,
"cdna_start": 431,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000943863.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613922.1",
"strand": true,
"transcript": "ENST00000943863.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3526,
"cdna_start": 737,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000943864.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613923.1",
"strand": true,
"transcript": "ENST00000943864.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2780,
"cdna_start": 155,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000943865.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613924.1",
"strand": true,
"transcript": "ENST00000943865.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2881,
"cdna_start": 512,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000943867.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613926.1",
"strand": true,
"transcript": "ENST00000943867.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3961,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000943868.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613927.1",
"strand": true,
"transcript": "ENST00000943868.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4185,
"cdna_start": 2209,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000943869.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613928.1",
"strand": true,
"transcript": "ENST00000943869.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2352,
"cdna_start": 386,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000943872.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613931.1",
"strand": true,
"transcript": "ENST00000943872.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2673,
"cdna_start": 707,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000943874.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613933.1",
"strand": true,
"transcript": "ENST00000943874.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2537,
"cdna_start": 574,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000943875.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613934.1",
"strand": true,
"transcript": "ENST00000943875.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 537,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2126,
"cdna_start": 19,
"cds_end": null,
"cds_length": 1614,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000476808.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419010.1",
"strand": true,
"transcript": "ENST00000476808.1",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 537,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2787,
"cdna_start": 344,
"cds_end": null,
"cds_length": 1614,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000943866.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613925.1",
"strand": true,
"transcript": "ENST00000943866.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 663,
"cds_end": null,
"cds_length": 1530,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000943870.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613929.1",
"strand": true,
"transcript": "ENST00000943870.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 133,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 588,
"cdna_start": 205,
"cds_end": null,
"cds_length": 402,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000482138.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417275.1",
"strand": true,
"transcript": "ENST00000482138.1",
"transcript_support_level": 4
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 126,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 627,
"cdna_start": 264,
"cds_end": null,
"cds_length": 382,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000493074.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417347.1",
"strand": true,
"transcript": "ENST00000493074.1",
"transcript_support_level": 4
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 124,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 613,
"cdna_start": 255,
"cds_end": null,
"cds_length": 377,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000468001.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418922.1",
"strand": true,
"transcript": "ENST00000468001.1",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 116,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 603,
"cdna_start": 271,
"cds_end": null,
"cds_length": 351,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000454495.6",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416836.2",
"strand": true,
"transcript": "ENST00000454495.6",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 112,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 562,
"cdna_start": 240,
"cds_end": null,
"cds_length": 341,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000427201.2",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408567.2",
"strand": true,
"transcript": "ENST00000427201.2",
"transcript_support_level": 4
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 77,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 574,
"cdna_start": 359,
"cds_end": null,
"cds_length": 234,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000468101.5",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420207.1",
"strand": true,
"transcript": "ENST00000468101.5",
"transcript_support_level": 4
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 72,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 542,
"cdna_start": 342,
"cds_end": null,
"cds_length": 219,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000473045.5",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419120.1",
"strand": true,
"transcript": "ENST00000473045.5",
"transcript_support_level": 4
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 59,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 563,
"cdna_start": 400,
"cds_end": null,
"cds_length": 182,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000437402.5",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408516.1",
"strand": true,
"transcript": "ENST00000437402.5",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 625,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7395,
"cdna_start": 303,
"cds_end": null,
"cds_length": 1878,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017006653.2",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862142.1",
"strand": true,
"transcript": "XM_017006653.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 625,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7434,
"cdna_start": 342,
"cds_end": null,
"cds_length": 1878,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017006655.2",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862144.1",
"strand": true,
"transcript": "XM_017006655.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 625,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7297,
"cdna_start": 205,
"cds_end": null,
"cds_length": 1878,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017006658.2",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862147.1",
"strand": true,
"transcript": "XM_017006658.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 625,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7846,
"cdna_start": 754,
"cds_end": null,
"cds_length": 1878,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047448371.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304327.1",
"strand": true,
"transcript": "XM_047448371.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7422,
"cdna_start": 405,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005247552.3",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005247609.1",
"strand": true,
"transcript": "XM_005247552.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7771,
"cdna_start": 754,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047448372.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304328.1",
"strand": true,
"transcript": "XM_047448372.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7320,
"cdna_start": 303,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047448373.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304329.1",
"strand": true,
"transcript": "XM_047448373.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7725,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1803,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047448374.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304330.1",
"strand": true,
"transcript": "XM_047448374.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1543,
"cdna_start": 268,
"cds_end": null,
"cds_length": 1128,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047448375.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304331.1",
"strand": true,
"transcript": "XM_047448375.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 319,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7454,
"cdna_start": null,
"cds_end": null,
"cds_length": 960,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001349428.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.-948C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336357.1",
"strand": true,
"transcript": "NM_001349428.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 319,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7443,
"cdna_start": null,
"cds_end": null,
"cds_length": 960,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001349429.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "c.-948C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336358.1",
"strand": true,
"transcript": "NM_001349429.1",
"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": 7149,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NR_146169.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "n.251C>T",
"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": "NR_146169.1",
"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": 7212,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NR_146170.1",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "n.314C>T",
"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": "NR_146170.1",
"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": 545,
"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": "ENST00000475827.5",
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"hgvs_c": "n.152-13083C>T",
"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": "ENST00000475827.5",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs145987220",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"frequency_reference_population": 0.000026039213,
"gene_hgnc_id": 25947,
"gene_symbol": "KLHL24",
"gnomad_exomes_ac": 34,
"gnomad_exomes_af": 0.0000232738,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 8,
"gnomad_genomes_af": 0.0000526039,
"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": "Inborn genetic diseases",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.941,
"pos": 183650375,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.514,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001349428.1"
}
]
}