← 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: 22-36141756-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=36141756&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "APOL3",
"hgnc_id": 14868,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ala218Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_145640.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1332,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"chr": "22",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.32971814274787903,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2041,
"cdna_start": 614,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_145639.2",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000424878.4",
"protein_coding": true,
"protein_id": "NP_663614.1",
"strand": false,
"transcript": "NM_145639.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2041,
"cdna_start": 614,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000424878.4",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145639.2",
"protein_coding": true,
"protein_id": "ENSP00000415779.3",
"strand": false,
"transcript": "ENST00000424878.4",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 402,
"aa_ref": "A",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2655,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1209,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000349314.7",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ala218Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344577.2",
"strand": false,
"transcript": "ENST00000349314.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 202,
"aa_ref": "A",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3563,
"cdna_start": 2137,
"cds_end": null,
"cds_length": 609,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000361710.6",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Ala18Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355164.2",
"strand": false,
"transcript": "ENST00000361710.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 202,
"aa_ref": "A",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3626,
"cdna_start": 2200,
"cds_end": null,
"cds_length": 609,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000397287.6",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Ala18Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380456.2",
"strand": false,
"transcript": "ENST00000397287.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2214,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000397289.6",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "n.*456C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000380457.2",
"strand": false,
"transcript": "ENST00000397289.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2327,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000422426.5",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "n.*614C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000409345.1",
"strand": false,
"transcript": "ENST00000422426.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2443,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000432700.5",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "n.*730C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000416732.1",
"strand": false,
"transcript": "ENST00000432700.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2214,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000397289.6",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "n.*456C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000380457.2",
"strand": false,
"transcript": "ENST00000397289.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2327,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000422426.5",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "n.*614C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000409345.1",
"strand": false,
"transcript": "ENST00000422426.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2443,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000432700.5",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "n.*730C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000416732.1",
"strand": false,
"transcript": "ENST00000432700.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 402,
"aa_ref": "A",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2124,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1209,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_145640.2",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ala218Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_663615.1",
"strand": false,
"transcript": "NM_145640.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 332,
"aa_ref": "A",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2577,
"cdna_start": 1150,
"cds_end": null,
"cds_length": 999,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001393587.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380516.1",
"strand": false,
"transcript": "NM_001393587.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 332,
"aa_ref": "A",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2157,
"cdna_start": 730,
"cds_end": null,
"cds_length": 999,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001393588.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380517.1",
"strand": false,
"transcript": "NM_001393588.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 332,
"aa_ref": "A",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": 636,
"cds_end": null,
"cds_length": 999,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001393589.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380518.1",
"strand": false,
"transcript": "NM_001393589.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 332,
"aa_ref": "A",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2273,
"cdna_start": 846,
"cds_end": null,
"cds_length": 999,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001393590.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380519.1",
"strand": false,
"transcript": "NM_001393590.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 332,
"aa_ref": "A",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2044,
"cdna_start": 617,
"cds_end": null,
"cds_length": 999,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001393591.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380520.1",
"strand": false,
"transcript": "NM_001393591.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 332,
"aa_ref": "A",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 865,
"cds_end": null,
"cds_length": 999,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001393592.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380521.1",
"strand": false,
"transcript": "NM_001393592.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2103,
"cdna_start": 676,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001393593.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380522.1",
"strand": false,
"transcript": "NM_001393593.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2197,
"cdna_start": 770,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001393595.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380524.1",
"strand": false,
"transcript": "NM_001393595.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2458,
"cdna_start": 1031,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001393596.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380525.1",
"strand": false,
"transcript": "NM_001393596.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2345,
"cdna_start": 918,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001393597.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380526.1",
"strand": false,
"transcript": "NM_001393597.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001393598.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380527.1",
"strand": false,
"transcript": "NM_001393598.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2084,
"cdna_start": 657,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001393599.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380528.1",
"strand": false,
"transcript": "NM_001393599.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2060,
"cdna_start": 633,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001393600.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380529.1",
"strand": false,
"transcript": "NM_001393600.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2348,
"cdna_start": 921,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001393601.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380530.1",
"strand": false,
"transcript": "NM_001393601.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2173,
"cdna_start": 746,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001393602.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380531.1",
"strand": false,
"transcript": "NM_001393602.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2289,
"cdna_start": 862,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001393603.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380532.1",
"strand": false,
"transcript": "NM_001393603.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2293,
"cdna_start": 866,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001393604.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380533.1",
"strand": false,
"transcript": "NM_001393604.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2270,
"cdna_start": 843,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_014349.3",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055164.1",
"strand": false,
"transcript": "NM_014349.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": 727,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_030644.2",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_085147.1",
"strand": false,
"transcript": "NM_030644.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2146,
"cdna_start": 719,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000857486.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527545.1",
"strand": false,
"transcript": "ENST00000857486.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2492,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000857487.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527546.1",
"strand": false,
"transcript": "ENST00000857487.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2608,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857488.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527547.1",
"strand": false,
"transcript": "ENST00000857488.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2323,
"cdna_start": 898,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000857489.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527548.1",
"strand": false,
"transcript": "ENST00000857489.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": 1133,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000857490.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527549.1",
"strand": false,
"transcript": "ENST00000857490.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2197,
"cdna_start": 770,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857491.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527550.1",
"strand": false,
"transcript": "ENST00000857491.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2342,
"cdna_start": 918,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857492.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527551.1",
"strand": false,
"transcript": "ENST00000857492.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2610,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000857493.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527552.1",
"strand": false,
"transcript": "ENST00000857493.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2157,
"cdna_start": 732,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857494.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527553.1",
"strand": false,
"transcript": "ENST00000857494.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3089,
"cdna_start": 1664,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000857495.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527554.1",
"strand": false,
"transcript": "ENST00000857495.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2426,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000857496.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527555.1",
"strand": false,
"transcript": "ENST00000857496.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2493,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000955239.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625298.1",
"strand": false,
"transcript": "ENST00000955239.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2304,
"cdna_start": 873,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000955240.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625299.1",
"strand": false,
"transcript": "ENST00000955240.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2414,
"cdna_start": 989,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000955241.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625300.1",
"strand": false,
"transcript": "ENST00000955241.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2173,
"cdna_start": 748,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000955242.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625301.1",
"strand": false,
"transcript": "ENST00000955242.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000955243.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625302.1",
"strand": false,
"transcript": "ENST00000955243.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3373,
"cdna_start": 1946,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000955244.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625303.1",
"strand": false,
"transcript": "ENST00000955244.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 317,
"aa_ref": "A",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1964,
"cdna_start": 537,
"cds_end": null,
"cds_length": 954,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001393605.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Ala133Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380534.1",
"strand": false,
"transcript": "NM_001393605.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 221,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1005,
"cdna_start": 777,
"cds_end": null,
"cds_length": 668,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000487355.5",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433618.2",
"strand": false,
"transcript": "ENST00000487355.5",
"transcript_support_level": 4
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 202,
"aa_ref": "A",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2313,
"cdna_start": 886,
"cds_end": null,
"cds_length": 609,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001393606.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Ala18Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380535.1",
"strand": false,
"transcript": "NM_001393606.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 202,
"aa_ref": "A",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1947,
"cdna_start": 520,
"cds_end": null,
"cds_length": 609,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001393607.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Ala18Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380536.1",
"strand": false,
"transcript": "NM_001393607.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 202,
"aa_ref": "A",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1966,
"cdna_start": 539,
"cds_end": null,
"cds_length": 609,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001393608.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Ala18Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380537.1",
"strand": false,
"transcript": "NM_001393608.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 202,
"aa_ref": "A",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1963,
"cdna_start": 536,
"cds_end": null,
"cds_length": 609,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001393609.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Ala18Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380538.1",
"strand": false,
"transcript": "NM_001393609.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 202,
"aa_ref": "A",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3627,
"cdna_start": 2200,
"cds_end": null,
"cds_length": 609,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_145641.3",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Ala18Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_663616.1",
"strand": false,
"transcript": "NM_145641.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 202,
"aa_ref": "A",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3564,
"cdna_start": 2137,
"cds_end": null,
"cds_length": 609,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_145642.3",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.53C>T",
"hgvs_p": "p.Ala18Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_663617.1",
"strand": false,
"transcript": "NM_145642.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 145,
"aa_ref": "A",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 576,
"cdna_start": 536,
"cds_end": null,
"cds_length": 438,
"cds_start": 398,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000426939.6",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Ala133Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391174.3",
"strand": false,
"transcript": "ENST00000426939.6",
"transcript_support_level": 4
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 332,
"aa_ref": "A",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": 958,
"cds_end": null,
"cds_length": 999,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017028949.2",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884438.1",
"strand": false,
"transcript": "XM_017028949.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 332,
"aa_ref": "A",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3520,
"cdna_start": 2093,
"cds_end": null,
"cds_length": 999,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047441506.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297462.1",
"strand": false,
"transcript": "XM_047441506.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 332,
"aa_ref": "A",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2362,
"cdna_start": 935,
"cds_end": null,
"cds_length": 999,
"cds_start": 443,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047441507.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297463.1",
"strand": false,
"transcript": "XM_047441507.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3517,
"cdna_start": 2090,
"cds_end": null,
"cds_length": 996,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047441508.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ala147Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297464.1",
"strand": false,
"transcript": "XM_047441508.1",
"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": 576,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000487423.5",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "n.523C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000487423.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2180,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000531195.2",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "n.*571C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434449.2",
"strand": false,
"transcript": "ENST00000531195.2",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2180,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000531195.2",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "n.*571C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434449.2",
"strand": false,
"transcript": "ENST00000531195.2",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 110,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 569,
"cdna_start": null,
"cds_end": null,
"cds_length": 333,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000534251.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.*107C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512021.1",
"strand": true,
"transcript": "ENST00000534251.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 96,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 527,
"cdna_start": null,
"cds_end": null,
"cds_length": 293,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000695564.1",
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"hgvs_c": "c.*147C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512022.1",
"strand": true,
"transcript": "ENST00000695564.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 14868,
"gene_symbol": "APOL3",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": -3.117,
"pos": 36141756,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.04,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_145640.2"
}
]
}