← 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: 1-16986845-CAC-GAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=16986845&ref=CAC&alt=GAG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATP13A2",
"hgnc_id": 30213,
"hgvs_c": "c.3193_3195delGTGinsCTC",
"hgvs_p": "p.Val1065Leu",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_022089.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000226526",
"hgnc_id": null,
"hgvs_c": "n.187+7733_187+7735delCACinsGAG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000446261.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GAG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1180,
"aa_ref": "V",
"aa_start": 1065,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3996,
"cdna_start": 3385,
"cds_end": null,
"cds_length": 3543,
"cds_start": 3193,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_022089.4",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3193_3195delGTGinsCTC",
"hgvs_p": "p.Val1065Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000326735.13",
"protein_coding": true,
"protein_id": "NP_071372.1",
"strand": false,
"transcript": "NM_022089.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1180,
"aa_ref": "V",
"aa_start": 1065,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3996,
"cdna_start": 3385,
"cds_end": null,
"cds_length": 3543,
"cds_start": 3193,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000326735.13",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3193_3195delGTGinsCTC",
"hgvs_p": "p.Val1065Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022089.4",
"protein_coding": true,
"protein_id": "ENSP00000327214.8",
"strand": false,
"transcript": "ENST00000326735.13",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "V",
"aa_start": 1060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3981,
"cdna_start": 3370,
"cds_end": null,
"cds_length": 3528,
"cds_start": 3178,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000452699.5",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3178_3180delGTGinsCTC",
"hgvs_p": "p.Val1060Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413307.1",
"strand": false,
"transcript": "ENST00000452699.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1158,
"aa_ref": "V",
"aa_start": 1021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3681,
"cdna_start": 3240,
"cds_end": null,
"cds_length": 3477,
"cds_start": 3061,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000341676.9",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3061_3063delGTGinsCTC",
"hgvs_p": "p.Val1021Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341115.5",
"strand": false,
"transcript": "ENST00000341676.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "V",
"aa_start": 1060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3981,
"cdna_start": 3370,
"cds_end": null,
"cds_length": 3528,
"cds_start": 3178,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001141973.3",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3178_3180delGTGinsCTC",
"hgvs_p": "p.Val1060Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135445.1",
"strand": false,
"transcript": "NM_001141973.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1158,
"aa_ref": "V",
"aa_start": 1021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3694,
"cdna_start": 3253,
"cds_end": null,
"cds_length": 3477,
"cds_start": 3061,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001141974.3",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3061_3063delGTGinsCTC",
"hgvs_p": "p.Val1021Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135446.1",
"strand": false,
"transcript": "NM_001141974.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 398,
"aa_ref": "V",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1201,
"cdna_start": 783,
"cds_end": null,
"cds_length": 1197,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000502418.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.781_783delGTGinsCTC",
"hgvs_p": "p.Val261Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423065.1",
"strand": false,
"transcript": "ENST00000502418.1",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1201,
"aa_ref": "V",
"aa_start": 1064,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3823,
"cdna_start": 3382,
"cds_end": null,
"cds_length": 3606,
"cds_start": 3190,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005245810.2",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3190_3192delGTGinsCTC",
"hgvs_p": "p.Val1064Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245867.1",
"strand": false,
"transcript": "XM_005245810.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "V",
"aa_start": 1060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3811,
"cdna_start": 3370,
"cds_end": null,
"cds_length": 3594,
"cds_start": 3178,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005245811.2",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3178_3180delGTGinsCTC",
"hgvs_p": "p.Val1060Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245868.1",
"strand": false,
"transcript": "XM_005245811.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "V",
"aa_start": 1060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3811,
"cdna_start": 3370,
"cds_end": null,
"cds_length": 3594,
"cds_start": 3178,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011541128.2",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3178_3180delGTGinsCTC",
"hgvs_p": "p.Val1060Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011539430.1",
"strand": false,
"transcript": "XM_011541128.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1196,
"aa_ref": "V",
"aa_start": 1059,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3808,
"cdna_start": 3367,
"cds_end": null,
"cds_length": 3591,
"cds_start": 3175,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006710512.2",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3175_3177delGTGinsCTC",
"hgvs_p": "p.Val1059Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006710575.1",
"strand": false,
"transcript": "XM_006710512.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1196,
"aa_ref": "V",
"aa_start": 1059,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3808,
"cdna_start": 3367,
"cds_end": null,
"cds_length": 3591,
"cds_start": 3175,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416537.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3175_3177delGTGinsCTC",
"hgvs_p": "p.Val1059Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272493.1",
"strand": false,
"transcript": "XM_047416537.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1193,
"aa_ref": "V",
"aa_start": 1056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3799,
"cdna_start": 3358,
"cds_end": null,
"cds_length": 3582,
"cds_start": 3166,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005245812.2",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3166_3168delGTGinsCTC",
"hgvs_p": "p.Val1056Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245869.1",
"strand": false,
"transcript": "XM_005245812.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1192,
"aa_ref": "V",
"aa_start": 1055,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3796,
"cdna_start": 3355,
"cds_end": null,
"cds_length": 3579,
"cds_start": 3163,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416538.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3163_3165delGTGinsCTC",
"hgvs_p": "p.Val1055Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272494.1",
"strand": false,
"transcript": "XM_047416538.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1192,
"aa_ref": "V",
"aa_start": 1055,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3796,
"cdna_start": 3355,
"cds_end": null,
"cds_length": 3579,
"cds_start": 3163,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416539.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3163_3165delGTGinsCTC",
"hgvs_p": "p.Val1055Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272495.1",
"strand": false,
"transcript": "XM_047416539.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1188,
"aa_ref": "V",
"aa_start": 1051,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3784,
"cdna_start": 3343,
"cds_end": null,
"cds_length": 3567,
"cds_start": 3151,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006710513.2",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3151_3153delGTGinsCTC",
"hgvs_p": "p.Val1051Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006710576.1",
"strand": false,
"transcript": "XM_006710513.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1187,
"aa_ref": "V",
"aa_start": 1050,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3781,
"cdna_start": 3340,
"cds_end": null,
"cds_length": 3564,
"cds_start": 3148,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416542.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3148_3150delGTGinsCTC",
"hgvs_p": "p.Val1050Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272498.1",
"strand": false,
"transcript": "XM_047416542.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1179,
"aa_ref": "V",
"aa_start": 1064,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3993,
"cdna_start": 3382,
"cds_end": null,
"cds_length": 3540,
"cds_start": 3190,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416544.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3190_3192delGTGinsCTC",
"hgvs_p": "p.Val1064Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272500.1",
"strand": false,
"transcript": "XM_047416544.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "V",
"aa_start": 1060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3981,
"cdna_start": 3370,
"cds_end": null,
"cds_length": 3528,
"cds_start": 3178,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017000844.2",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3178_3180delGTGinsCTC",
"hgvs_p": "p.Val1060Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856333.1",
"strand": false,
"transcript": "XM_017000844.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1174,
"aa_ref": "V",
"aa_start": 1059,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3978,
"cdna_start": 3367,
"cds_end": null,
"cds_length": 3525,
"cds_start": 3175,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017000845.2",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3175_3177delGTGinsCTC",
"hgvs_p": "p.Val1059Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856334.1",
"strand": false,
"transcript": "XM_017000845.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1174,
"aa_ref": "V",
"aa_start": 1059,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3978,
"cdna_start": 3367,
"cds_end": null,
"cds_length": 3525,
"cds_start": 3175,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416546.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3175_3177delGTGinsCTC",
"hgvs_p": "p.Val1059Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272502.1",
"strand": false,
"transcript": "XM_047416546.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1171,
"aa_ref": "V",
"aa_start": 1056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3969,
"cdna_start": 3358,
"cds_end": null,
"cds_length": 3516,
"cds_start": 3166,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416547.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3166_3168delGTGinsCTC",
"hgvs_p": "p.Val1056Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272503.1",
"strand": false,
"transcript": "XM_047416547.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1170,
"aa_ref": "V",
"aa_start": 1055,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3966,
"cdna_start": 3355,
"cds_end": null,
"cds_length": 3513,
"cds_start": 3163,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416548.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3163_3165delGTGinsCTC",
"hgvs_p": "p.Val1055Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272504.1",
"strand": false,
"transcript": "XM_047416548.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1170,
"aa_ref": "V",
"aa_start": 1055,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3966,
"cdna_start": 3355,
"cds_end": null,
"cds_length": 3513,
"cds_start": 3163,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416549.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3163_3165delGTGinsCTC",
"hgvs_p": "p.Val1055Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272505.1",
"strand": false,
"transcript": "XM_047416549.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1169,
"aa_ref": "V",
"aa_start": 1054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3963,
"cdna_start": 3352,
"cds_end": null,
"cds_length": 3510,
"cds_start": 3160,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416550.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3160_3162delGTGinsCTC",
"hgvs_p": "p.Val1054Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272506.1",
"strand": false,
"transcript": "XM_047416550.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1166,
"aa_ref": "V",
"aa_start": 1051,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3954,
"cdna_start": 3343,
"cds_end": null,
"cds_length": 3501,
"cds_start": 3151,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017000846.2",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3151_3153delGTGinsCTC",
"hgvs_p": "p.Val1051Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856335.1",
"strand": false,
"transcript": "XM_017000846.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1166,
"aa_ref": "V",
"aa_start": 1051,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3954,
"cdna_start": 3343,
"cds_end": null,
"cds_length": 3501,
"cds_start": 3151,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416551.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3151_3153delGTGinsCTC",
"hgvs_p": "p.Val1051Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272507.1",
"strand": false,
"transcript": "XM_047416551.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1165,
"aa_ref": "V",
"aa_start": 1050,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3951,
"cdna_start": 3340,
"cds_end": null,
"cds_length": 3498,
"cds_start": 3148,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017000847.2",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3148_3150delGTGinsCTC",
"hgvs_p": "p.Val1050Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856336.1",
"strand": false,
"transcript": "XM_017000847.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1165,
"aa_ref": "V",
"aa_start": 1050,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3951,
"cdna_start": 3340,
"cds_end": null,
"cds_length": 3498,
"cds_start": 3148,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416553.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3148_3150delGTGinsCTC",
"hgvs_p": "p.Val1050Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272509.1",
"strand": false,
"transcript": "XM_047416553.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1163,
"aa_ref": "V",
"aa_start": 1026,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3709,
"cdna_start": 3268,
"cds_end": null,
"cds_length": 3492,
"cds_start": 3076,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005245815.2",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3076_3078delGTGinsCTC",
"hgvs_p": "p.Val1026Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245872.1",
"strand": false,
"transcript": "XM_005245815.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1162,
"aa_ref": "V",
"aa_start": 1025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3706,
"cdna_start": 3265,
"cds_end": null,
"cds_length": 3489,
"cds_start": 3073,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416554.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3073_3075delGTGinsCTC",
"hgvs_p": "p.Val1025Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272510.1",
"strand": false,
"transcript": "XM_047416554.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1161,
"aa_ref": "V",
"aa_start": 1046,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3939,
"cdna_start": 3328,
"cds_end": null,
"cds_length": 3486,
"cds_start": 3136,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416556.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3136_3138delGTGinsCTC",
"hgvs_p": "p.Val1046Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272512.1",
"strand": false,
"transcript": "XM_047416556.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1141,
"aa_ref": "V",
"aa_start": 1026,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3879,
"cdna_start": 3268,
"cds_end": null,
"cds_length": 3426,
"cds_start": 3076,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017000848.2",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3076_3078delGTGinsCTC",
"hgvs_p": "p.Val1026Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856337.1",
"strand": false,
"transcript": "XM_017000848.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1140,
"aa_ref": "V",
"aa_start": 1025,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3876,
"cdna_start": 3265,
"cds_end": null,
"cds_length": 3423,
"cds_start": 3073,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416560.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3073_3075delGTGinsCTC",
"hgvs_p": "p.Val1025Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272516.1",
"strand": false,
"transcript": "XM_047416560.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1136,
"aa_ref": "V",
"aa_start": 1021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3864,
"cdna_start": 3253,
"cds_end": null,
"cds_length": 3411,
"cds_start": 3061,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017000849.2",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3061_3063delGTGinsCTC",
"hgvs_p": "p.Val1021Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856338.1",
"strand": false,
"transcript": "XM_017000849.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1136,
"aa_ref": "V",
"aa_start": 1021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3864,
"cdna_start": 3253,
"cds_end": null,
"cds_length": 3411,
"cds_start": 3061,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416562.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3061_3063delGTGinsCTC",
"hgvs_p": "p.Val1021Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272518.1",
"strand": false,
"transcript": "XM_047416562.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1135,
"aa_ref": "V",
"aa_start": 1020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3861,
"cdna_start": 3250,
"cds_end": null,
"cds_length": 3408,
"cds_start": 3058,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416563.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3058_3060delGTGinsCTC",
"hgvs_p": "p.Val1020Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272519.1",
"strand": false,
"transcript": "XM_047416563.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1133,
"aa_ref": "V",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3619,
"cdna_start": 3178,
"cds_end": null,
"cds_length": 3402,
"cds_start": 2986,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011541129.2",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.2986_2988delGTGinsCTC",
"hgvs_p": "p.Val996Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011539431.1",
"strand": false,
"transcript": "XM_011541129.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "V",
"aa_start": 995,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3616,
"cdna_start": 3175,
"cds_end": null,
"cds_length": 3399,
"cds_start": 2983,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416564.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.2983_2985delGTGinsCTC",
"hgvs_p": "p.Val995Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272520.1",
"strand": false,
"transcript": "XM_047416564.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "V",
"aa_start": 1017,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3852,
"cdna_start": 3241,
"cds_end": null,
"cds_length": 3399,
"cds_start": 3049,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416565.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.3049_3051delGTGinsCTC",
"hgvs_p": "p.Val1017Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272521.1",
"strand": false,
"transcript": "XM_047416565.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1124,
"aa_ref": "V",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3592,
"cdna_start": 3151,
"cds_end": null,
"cds_length": 3375,
"cds_start": 2959,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416566.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.2959_2961delGTGinsCTC",
"hgvs_p": "p.Val987Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272522.1",
"strand": false,
"transcript": "XM_047416566.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1111,
"aa_ref": "V",
"aa_start": 996,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3789,
"cdna_start": 3178,
"cds_end": null,
"cds_length": 3336,
"cds_start": 2986,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017000850.2",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.2986_2988delGTGinsCTC",
"hgvs_p": "p.Val996Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856339.1",
"strand": false,
"transcript": "XM_017000850.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1110,
"aa_ref": "V",
"aa_start": 995,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3786,
"cdna_start": 3175,
"cds_end": null,
"cds_length": 3333,
"cds_start": 2983,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416567.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.2983_2985delGTGinsCTC",
"hgvs_p": "p.Val995Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272523.1",
"strand": false,
"transcript": "XM_047416567.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "V",
"aa_start": 991,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3774,
"cdna_start": 3163,
"cds_end": null,
"cds_length": 3321,
"cds_start": 2971,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416568.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.2971_2973delGTGinsCTC",
"hgvs_p": "p.Val991Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272524.1",
"strand": false,
"transcript": "XM_047416568.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "V",
"aa_start": 990,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3771,
"cdna_start": 3160,
"cds_end": null,
"cds_length": 3318,
"cds_start": 2968,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416569.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.2968_2970delGTGinsCTC",
"hgvs_p": "p.Val990Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272525.1",
"strand": false,
"transcript": "XM_047416569.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1102,
"aa_ref": "V",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3762,
"cdna_start": 3151,
"cds_end": null,
"cds_length": 3309,
"cds_start": 2959,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416570.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.2959_2961delGTGinsCTC",
"hgvs_p": "p.Val987Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272526.1",
"strand": false,
"transcript": "XM_047416570.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1097,
"aa_ref": "V",
"aa_start": 982,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3747,
"cdna_start": 3136,
"cds_end": null,
"cds_length": 3294,
"cds_start": 2944,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416571.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "c.2944_2946delGTGinsCTC",
"hgvs_p": "p.Val982Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272527.1",
"strand": false,
"transcript": "XM_047416571.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1851,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000466561.1",
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"hgvs_c": "n.1067_1069delGTGinsCTC",
"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": "ENST00000466561.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 636,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000446261.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000226526",
"hgvs_c": "n.187+7733_187+7735delCACinsGAG",
"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": "ENST00000446261.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 30213,
"gene_symbol": "ATP13A2",
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.413,
"pos": 16986845,
"ref": "CAC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_022089.4"
}
]
}