← 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: 8-144424059-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144424059&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "VPS28",
"hgnc_id": 18178,
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177His",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_183057.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 67,
"alphamissense_prediction": null,
"alphamissense_score": 0.3053,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.13,
"chr": "8",
"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": 0.2710208296775818,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 221,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 948,
"cdna_start": 624,
"cds_end": null,
"cds_length": 666,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_016208.4",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000292510.6",
"protein_coding": true,
"protein_id": "NP_057292.1",
"strand": false,
"transcript": "NM_016208.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 221,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 948,
"cdna_start": 624,
"cds_end": null,
"cds_length": 666,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000292510.6",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016208.4",
"protein_coding": true,
"protein_id": "ENSP00000292510.3",
"strand": false,
"transcript": "ENST00000292510.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 233,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1097,
"cdna_start": 639,
"cds_end": null,
"cds_length": 702,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000377348.6",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366565.2",
"strand": false,
"transcript": "ENST00000377348.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 221,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 892,
"cdna_start": 568,
"cds_end": null,
"cds_length": 666,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000526054.5",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434064.1",
"strand": false,
"transcript": "ENST00000526054.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 245,
"aa_ref": "R",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 985,
"cdna_start": 667,
"cds_end": null,
"cds_length": 738,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000969323.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.602G>A",
"hgvs_p": "p.Arg201His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639382.1",
"strand": false,
"transcript": "ENST00000969323.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 240,
"aa_ref": "R",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 984,
"cdna_start": 661,
"cds_end": null,
"cds_length": 723,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000909919.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579978.1",
"strand": false,
"transcript": "ENST00000909919.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 236,
"aa_ref": "R",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1112,
"cdna_start": 788,
"cds_end": null,
"cds_length": 711,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000969315.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639374.1",
"strand": false,
"transcript": "ENST00000969315.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 235,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 985,
"cdna_start": 661,
"cds_end": null,
"cds_length": 708,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000909914.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579973.1",
"strand": false,
"transcript": "ENST00000909914.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 235,
"aa_ref": "R",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1097,
"cdna_start": 774,
"cds_end": null,
"cds_length": 708,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000909917.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579976.1",
"strand": false,
"transcript": "ENST00000909917.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 233,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1066,
"cdna_start": 624,
"cds_end": null,
"cds_length": 702,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_183057.3",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_898880.1",
"strand": false,
"transcript": "NM_183057.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 233,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1010,
"cdna_start": 568,
"cds_end": null,
"cds_length": 702,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000529182.5",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434556.1",
"strand": false,
"transcript": "ENST00000529182.5",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 231,
"aa_ref": "R",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 926,
"cdna_start": 625,
"cds_end": null,
"cds_length": 696,
"cds_start": 560,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000969326.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Arg187His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639385.1",
"strand": false,
"transcript": "ENST00000969326.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 229,
"aa_ref": "R",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 946,
"cdna_start": 619,
"cds_end": null,
"cds_length": 690,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000969319.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.554G>A",
"hgvs_p": "p.Arg185His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639378.1",
"strand": false,
"transcript": "ENST00000969319.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 225,
"aa_ref": "R",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 936,
"cdna_start": 607,
"cds_end": null,
"cds_length": 678,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000909921.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Arg181His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579980.1",
"strand": false,
"transcript": "ENST00000909921.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 221,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1031,
"cdna_start": 704,
"cds_end": null,
"cds_length": 666,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000909910.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579969.1",
"strand": false,
"transcript": "ENST00000909910.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 221,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1069,
"cdna_start": 744,
"cds_end": null,
"cds_length": 666,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000909911.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579970.1",
"strand": false,
"transcript": "ENST00000909911.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 221,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1048,
"cdna_start": 724,
"cds_end": null,
"cds_length": 666,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000909912.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579971.1",
"strand": false,
"transcript": "ENST00000909912.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 221,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 922,
"cdna_start": 595,
"cds_end": null,
"cds_length": 666,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000969316.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639375.1",
"strand": false,
"transcript": "ENST00000969316.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 221,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1146,
"cdna_start": 829,
"cds_end": null,
"cds_length": 666,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000969317.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639376.1",
"strand": false,
"transcript": "ENST00000969317.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 221,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 929,
"cdna_start": 605,
"cds_end": null,
"cds_length": 666,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000969318.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639377.1",
"strand": false,
"transcript": "ENST00000969318.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 221,
"aa_ref": "R",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1374,
"cdna_start": 1050,
"cds_end": null,
"cds_length": 666,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000969325.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639384.1",
"strand": false,
"transcript": "ENST00000969325.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 219,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 942,
"cdna_start": 618,
"cds_end": null,
"cds_length": 660,
"cds_start": 524,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000909913.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579972.1",
"strand": false,
"transcript": "ENST00000909913.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 219,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 940,
"cdna_start": 613,
"cds_end": null,
"cds_length": 660,
"cds_start": 524,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000938153.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608212.1",
"strand": false,
"transcript": "ENST00000938153.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 218,
"aa_ref": "R",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 916,
"cdna_start": 592,
"cds_end": null,
"cds_length": 657,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000909920.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.521G>A",
"hgvs_p": "p.Arg174His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579979.1",
"strand": false,
"transcript": "ENST00000909920.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 218,
"aa_ref": "R",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 907,
"cdna_start": 586,
"cds_end": null,
"cds_length": 657,
"cds_start": 521,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000969321.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.521G>A",
"hgvs_p": "p.Arg174His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639380.1",
"strand": false,
"transcript": "ENST00000969321.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 916,
"cdna_start": 597,
"cds_end": null,
"cds_length": 651,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000909918.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579977.1",
"strand": false,
"transcript": "ENST00000909918.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 216,
"aa_ref": "R",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1199,
"cdna_start": 876,
"cds_end": null,
"cds_length": 651,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000969320.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639379.1",
"strand": false,
"transcript": "ENST00000969320.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 212,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 888,
"cdna_start": 562,
"cds_end": null,
"cds_length": 639,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000909923.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579982.1",
"strand": false,
"transcript": "ENST00000909923.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 212,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1170,
"cdna_start": 846,
"cds_end": null,
"cds_length": 639,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000969324.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Arg168His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639383.1",
"strand": false,
"transcript": "ENST00000969324.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 208,
"aa_ref": "R",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 874,
"cdna_start": 556,
"cds_end": null,
"cds_length": 627,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000969322.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.491G>A",
"hgvs_p": "p.Arg164His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639381.1",
"strand": false,
"transcript": "ENST00000969322.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 204,
"aa_ref": "R",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1012,
"cdna_start": 688,
"cds_end": null,
"cds_length": 615,
"cds_start": 479,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000909915.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.479G>A",
"hgvs_p": "p.Arg160His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579974.1",
"strand": false,
"transcript": "ENST00000909915.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 204,
"aa_ref": "R",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1182,
"cdna_start": 860,
"cds_end": null,
"cds_length": 615,
"cds_start": 479,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000909916.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.479G>A",
"hgvs_p": "p.Arg160His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579975.1",
"strand": false,
"transcript": "ENST00000909916.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 204,
"aa_ref": "R",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 969,
"cdna_start": 644,
"cds_end": null,
"cds_length": 615,
"cds_start": 479,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000909922.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.479G>A",
"hgvs_p": "p.Arg160His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579981.1",
"strand": false,
"transcript": "ENST00000909922.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 204,
"aa_ref": "R",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2283,
"cdna_start": 1966,
"cds_end": null,
"cds_length": 615,
"cds_start": 479,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000909924.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.479G>A",
"hgvs_p": "p.Arg160His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579983.1",
"strand": false,
"transcript": "ENST00000909924.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 191,
"aa_ref": "R",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 836,
"cdna_start": 514,
"cds_end": null,
"cds_length": 576,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000938154.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.440G>A",
"hgvs_p": "p.Arg147His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608213.1",
"strand": false,
"transcript": "ENST00000938154.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 190,
"aa_ref": "R",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 795,
"cdna_start": 471,
"cds_end": null,
"cds_length": 573,
"cds_start": 437,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000938157.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608216.1",
"strand": false,
"transcript": "ENST00000938157.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 187,
"aa_ref": "R",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 811,
"cdna_start": 487,
"cds_end": null,
"cds_length": 564,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000938156.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Arg143His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608215.1",
"strand": false,
"transcript": "ENST00000938156.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 184,
"aa_ref": "R",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 650,
"cdna_start": 573,
"cds_end": null,
"cds_length": 556,
"cds_start": 479,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000533806.5",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.479G>A",
"hgvs_p": "p.Arg160His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431243.1",
"strand": false,
"transcript": "ENST00000533806.5",
"transcript_support_level": 3
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 174,
"aa_ref": "R",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 772,
"cdna_start": 448,
"cds_end": null,
"cds_length": 525,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000938155.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.389G>A",
"hgvs_p": "p.Arg130His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608214.1",
"strand": false,
"transcript": "ENST00000938155.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 204,
"aa_ref": "R",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 897,
"cdna_start": 573,
"cds_end": null,
"cds_length": 615,
"cds_start": 479,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_005272324.4",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.479G>A",
"hgvs_p": "p.Arg160His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005272381.1",
"strand": false,
"transcript": "XM_005272324.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 183,
"aa_ref": "R",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1001,
"cdna_start": 677,
"cds_end": null,
"cds_length": 552,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047421845.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.416G>A",
"hgvs_p": "p.Arg139His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277801.1",
"strand": false,
"transcript": "XM_047421845.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 183,
"aa_ref": "R",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 893,
"cdna_start": 569,
"cds_end": null,
"cds_length": 552,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047421846.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.416G>A",
"hgvs_p": "p.Arg139His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277802.1",
"strand": false,
"transcript": "XM_047421846.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 103,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 640,
"cdna_start": null,
"cds_end": null,
"cds_length": 312,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969314.1",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.195-137G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639373.1",
"strand": false,
"transcript": "ENST00000969314.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2120,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000526204.5",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "n.*1653G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000433228.1",
"strand": false,
"transcript": "ENST00000526204.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2036,
"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": "ENST00000526977.5",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "n.1594G>A",
"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": "ENST00000526977.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1609,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000527797.6",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "n.1340G>A",
"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": "ENST00000527797.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1821,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000528142.5",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "n.1384G>A",
"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": "ENST00000528142.5",
"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": 1613,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000530836.5",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "n.*1157G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436102.1",
"strand": false,
"transcript": "ENST00000530836.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000530983.5",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "n.2017G>A",
"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": "ENST00000530983.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2120,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000526204.5",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "n.*1653G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000433228.1",
"strand": false,
"transcript": "ENST00000526204.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1613,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000530836.5",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "n.*1157G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436102.1",
"strand": false,
"transcript": "ENST00000530836.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 160,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 573,
"cdna_start": null,
"cds_end": null,
"cds_length": 484,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000531032.5",
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"hgvs_c": "c.*46G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434393.1",
"strand": true,
"transcript": "ENST00000531032.5",
"transcript_support_level": 1
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs782808890",
"effect": "missense_variant",
"frequency_reference_population": 0.000042600324,
"gene_hgnc_id": 18178,
"gene_symbol": "VPS28",
"gnomad_exomes_ac": 63,
"gnomad_exomes_af": 0.0000443475,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 4,
"gnomad_genomes_af": 0.0000262885,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.135,
"pos": 144424059,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.063,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_183057.3"
}
]
}