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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: X-153536369-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=153536369&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATP2B3",
"hgnc_id": 816,
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41Gln",
"inheritance_mode": "XL,Unknown",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001388362.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.6935,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.23,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8612833023071289,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1220,
"aa_ref": "R",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6774,
"cdna_start": 602,
"cds_end": null,
"cds_length": 3663,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001001344.3",
"gene_hgnc_id": 816,
"gene_symbol": "ATP2B3",
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263519.5",
"protein_coding": true,
"protein_id": "NP_001001344.1",
"strand": true,
"transcript": "NM_001001344.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1220,
"aa_ref": "R",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6774,
"cdna_start": 602,
"cds_end": null,
"cds_length": 3663,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000263519.5",
"gene_hgnc_id": 816,
"gene_symbol": "ATP2B3",
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001001344.3",
"protein_coding": true,
"protein_id": "ENSP00000263519.4",
"strand": true,
"transcript": "ENST00000263519.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1173,
"aa_ref": "R",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6928,
"cdna_start": 602,
"cds_end": null,
"cds_length": 3522,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000359149.9",
"gene_hgnc_id": 816,
"gene_symbol": "ATP2B3",
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352062.3",
"strand": true,
"transcript": "ENST00000359149.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1262,
"aa_ref": "R",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6206,
"cdna_start": 602,
"cds_end": null,
"cds_length": 3789,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001388362.1",
"gene_hgnc_id": 816,
"gene_symbol": "ATP2B3",
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375291.1",
"strand": true,
"transcript": "NM_001388362.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "R",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6825,
"cdna_start": 566,
"cds_end": null,
"cds_length": 3750,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000496610.2",
"gene_hgnc_id": 816,
"gene_symbol": "ATP2B3",
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516173.1",
"strand": true,
"transcript": "ENST00000496610.2",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1249,
"aa_ref": "R",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4884,
"cdna_start": 487,
"cds_end": null,
"cds_length": 3750,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000944046.1",
"gene_hgnc_id": 816,
"gene_symbol": "ATP2B3",
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614105.1",
"strand": true,
"transcript": "ENST00000944046.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1235,
"aa_ref": "R",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4570,
"cdna_start": 486,
"cds_end": null,
"cds_length": 3708,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000868323.1",
"gene_hgnc_id": 816,
"gene_symbol": "ATP2B3",
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538382.1",
"strand": true,
"transcript": "ENST00000868323.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1220,
"aa_ref": "R",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6654,
"cdna_start": 482,
"cds_end": null,
"cds_length": 3663,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001388361.1",
"gene_hgnc_id": 816,
"gene_symbol": "ATP2B3",
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375290.1",
"strand": true,
"transcript": "NM_001388361.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1220,
"aa_ref": "R",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4280,
"cdna_start": 448,
"cds_end": null,
"cds_length": 3663,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000349466.6",
"gene_hgnc_id": 816,
"gene_symbol": "ATP2B3",
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343886.2",
"strand": true,
"transcript": "ENST00000349466.6",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1185,
"aa_ref": "R",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3674,
"cdna_start": 122,
"cds_end": null,
"cds_length": 3558,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000705862.1",
"gene_hgnc_id": 816,
"gene_symbol": "ATP2B3",
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516174.1",
"strand": true,
"transcript": "ENST00000705862.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1173,
"aa_ref": "R",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6808,
"cdna_start": 482,
"cds_end": null,
"cds_length": 3522,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001388360.1",
"gene_hgnc_id": 816,
"gene_symbol": "ATP2B3",
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375289.1",
"strand": true,
"transcript": "NM_001388360.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1173,
"aa_ref": "R",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6928,
"cdna_start": 602,
"cds_end": null,
"cds_length": 3522,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_021949.4",
"gene_hgnc_id": 816,
"gene_symbol": "ATP2B3",
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_068768.2",
"strand": true,
"transcript": "NM_021949.4",
"transcript_support_level": null
},
{
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"aa_length": 1159,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6742,
"cdna_start": 448,
"cds_end": null,
"cds_length": 3480,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000370186.5",
"gene_hgnc_id": 816,
"gene_symbol": "ATP2B3",
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359205.1",
"strand": true,
"transcript": "ENST00000370186.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1154,
"aa_ref": "R",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4135,
"cdna_start": 602,
"cds_end": null,
"cds_length": 3465,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001410708.1",
"gene_hgnc_id": 816,
"gene_symbol": "ATP2B3",
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397637.1",
"strand": true,
"transcript": "NM_001410708.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1154,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4064,
"cdna_start": 526,
"cds_end": null,
"cds_length": 3465,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000393842.5",
"gene_hgnc_id": 816,
"gene_symbol": "ATP2B3",
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377425.1",
"strand": true,
"transcript": "ENST00000393842.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1274,
"aa_ref": "R",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6074,
"cdna_start": 434,
"cds_end": null,
"cds_length": 3825,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017029553.2",
"gene_hgnc_id": 816,
"gene_symbol": "ATP2B3",
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885042.1",
"strand": true,
"transcript": "XM_017029553.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1249,
"aa_ref": "R",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6861,
"cdna_start": 602,
"cds_end": null,
"cds_length": 3750,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005274689.4",
"gene_hgnc_id": 816,
"gene_symbol": "ATP2B3",
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005274746.1",
"strand": true,
"transcript": "XM_005274689.4",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6164,
"cdna_start": 602,
"cds_end": null,
"cds_length": 3747,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011531177.3",
"gene_hgnc_id": 816,
"gene_symbol": "ATP2B3",
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529479.1",
"strand": true,
"transcript": "XM_011531177.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1206,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6732,
"cdna_start": 602,
"cds_end": null,
"cds_length": 3621,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005274691.4",
"gene_hgnc_id": 816,
"gene_symbol": "ATP2B3",
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005274748.1",
"strand": true,
"transcript": "XM_005274691.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1168,
"aa_ref": "R",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4057,
"cdna_start": 482,
"cds_end": null,
"cds_length": 3507,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047442141.1",
"gene_hgnc_id": 816,
"gene_symbol": "ATP2B3",
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298097.1",
"strand": true,
"transcript": "XM_047442141.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "R",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6886,
"cdna_start": 602,
"cds_end": null,
"cds_length": 3480,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_024452386.2",
"gene_hgnc_id": 816,
"gene_symbol": "ATP2B3",
"hgvs_c": "c.122G>A",
"hgvs_p": "p.Arg41Gln",
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}