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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: 1-119755490-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=119755490&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HMGCS2",
"hgnc_id": 5008,
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ser375Phe",
"inheritance_mode": "AR",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_005518.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP2,PP3_Strong",
"acmg_score": 7,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.8621,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.23,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9562767744064331,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 508,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2433,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_005518.4",
"gene_hgnc_id": 5008,
"gene_symbol": "HMGCS2",
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ser375Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369406.8",
"protein_coding": true,
"protein_id": "NP_005509.1",
"strand": false,
"transcript": "NM_005518.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 508,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2433,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000369406.8",
"gene_hgnc_id": 5008,
"gene_symbol": "HMGCS2",
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ser375Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005518.4",
"protein_coding": true,
"protein_id": "ENSP00000358414.3",
"strand": false,
"transcript": "ENST00000369406.8",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 517,
"aa_ref": "S",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2439,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1151,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886233.1",
"gene_hgnc_id": 5008,
"gene_symbol": "HMGCS2",
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Ser384Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556292.1",
"strand": false,
"transcript": "ENST00000886233.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 508,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": 1336,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886228.1",
"gene_hgnc_id": 5008,
"gene_symbol": "HMGCS2",
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ser375Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556287.1",
"strand": false,
"transcript": "ENST00000886228.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 508,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2538,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886229.1",
"gene_hgnc_id": 5008,
"gene_symbol": "HMGCS2",
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ser375Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556288.1",
"strand": false,
"transcript": "ENST00000886229.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 508,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2652,
"cdna_start": 1200,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886230.1",
"gene_hgnc_id": 5008,
"gene_symbol": "HMGCS2",
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ser375Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556289.1",
"strand": false,
"transcript": "ENST00000886230.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 508,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2406,
"cdna_start": 1190,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886231.1",
"gene_hgnc_id": 5008,
"gene_symbol": "HMGCS2",
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ser375Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556290.1",
"strand": false,
"transcript": "ENST00000886231.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 508,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2087,
"cdna_start": 1240,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886234.1",
"gene_hgnc_id": 5008,
"gene_symbol": "HMGCS2",
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ser375Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556293.1",
"strand": false,
"transcript": "ENST00000886234.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 508,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4016,
"cdna_start": 1190,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886236.1",
"gene_hgnc_id": 5008,
"gene_symbol": "HMGCS2",
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ser375Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556295.1",
"strand": false,
"transcript": "ENST00000886236.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 508,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1832,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886238.1",
"gene_hgnc_id": 5008,
"gene_symbol": "HMGCS2",
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ser375Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556297.1",
"strand": false,
"transcript": "ENST00000886238.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 508,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3649,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886239.1",
"gene_hgnc_id": 5008,
"gene_symbol": "HMGCS2",
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ser375Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556298.1",
"strand": false,
"transcript": "ENST00000886239.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 508,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2275,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886241.1",
"gene_hgnc_id": 5008,
"gene_symbol": "HMGCS2",
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ser375Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556300.1",
"strand": false,
"transcript": "ENST00000886241.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 508,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2274,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886242.1",
"gene_hgnc_id": 5008,
"gene_symbol": "HMGCS2",
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ser375Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556301.1",
"strand": false,
"transcript": "ENST00000886242.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 500,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2029,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886240.1",
"gene_hgnc_id": 5008,
"gene_symbol": "HMGCS2",
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ser375Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556299.1",
"strand": false,
"transcript": "ENST00000886240.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 498,
"aa_ref": "S",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2023,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 1497,
"cds_start": 1124,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886244.1",
"gene_hgnc_id": 5008,
"gene_symbol": "HMGCS2",
"hgvs_c": "c.1124C>T",
"hgvs_p": "p.Ser375Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556303.1",
"strand": false,
"transcript": "ENST00000886244.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 482,
"aa_ref": "S",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1975,
"cdna_start": 1107,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1046,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000886243.1",
"gene_hgnc_id": 5008,
"gene_symbol": "HMGCS2",
"hgvs_c": "c.1046C>T",
"hgvs_p": "p.Ser349Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556302.1",
"strand": false,
"transcript": "ENST00000886243.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 466,
"aa_ref": "S",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2340,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1401,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001166107.1",
"gene_hgnc_id": 5008,
"gene_symbol": "HMGCS2",
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Ser333Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159579.1",
"strand": false,
"transcript": "NM_001166107.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 466,
"aa_ref": "S",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1925,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1401,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000544913.2",
"gene_hgnc_id": 5008,
"gene_symbol": "HMGCS2",
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Ser333Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439495.2",
"strand": false,
"transcript": "ENST00000544913.2",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 411,
"aa_ref": "S",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2121,
"cdna_start": 894,
"cds_end": null,
"cds_length": 1236,
"cds_start": 833,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000886232.1",
"gene_hgnc_id": 5008,
"gene_symbol": "HMGCS2",
"hgvs_c": "c.833C>T",
"hgvs_p": "p.Ser278Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556291.1",
"strand": false,
"transcript": "ENST00000886232.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 451,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1882,
"cdna_start": null,
"cds_end": null,
"cds_length": 1356,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886237.1",
"gene_hgnc_id": 5008,
"gene_symbol": "HMGCS2",
"hgvs_c": "c.1016+1783C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556296.1",
"strand": false,
"transcript": "ENST00000886237.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 305,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1427,
"cdna_start": null,
"cds_end": null,
"cds_length": 918,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886245.1",
"gene_hgnc_id": 5008,
"gene_symbol": "HMGCS2",
"hgvs_c": "c.686-2816C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
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}