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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: 9-83664043-CCT-GCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=83664043&ref=CCT&alt=GCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"gene_symbol": "UBQLN1",
"hgnc_id": 12508,
"hgvs_c": "c.1449-2_1449delAGGinsCGC",
"hgvs_p": "p.484",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_013438.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"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": "G",
"aa_end": null,
"aa_length": 589,
"aa_ref": "G",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3868,
"cdna_start": 1728,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1449,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_013438.5",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1449-2_1449delAGGinsCGC",
"hgvs_p": "p.484",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376395.9",
"protein_coding": true,
"protein_id": "NP_038466.2",
"strand": false,
"transcript": "NM_013438.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 589,
"aa_ref": "G",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3868,
"cdna_start": 1728,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1449,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000376395.9",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1449-2_1449delAGGinsCGC",
"hgvs_p": "p.484",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013438.5",
"protein_coding": true,
"protein_id": "ENSP00000365576.4",
"strand": false,
"transcript": "ENST00000376395.9",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 561,
"aa_ref": "G",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": 1620,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1365,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000257468.11",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1365-2_1365delAGGinsCGC",
"hgvs_p": "p.456",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000257468.7",
"strand": false,
"transcript": "ENST00000257468.11",
"transcript_support_level": 1
},
{
"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": 6055,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000533705.5",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "n.3918-2_3918delAGGinsCGC",
"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": "ENST00000533705.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 589,
"aa_ref": "G",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4551,
"cdna_start": 1750,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1449,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858201.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1449-2_1449delAGGinsCGC",
"hgvs_p": "p.484",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528260.1",
"strand": false,
"transcript": "ENST00000858201.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 587,
"aa_ref": "G",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3893,
"cdna_start": 1756,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1449,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858204.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1449-2_1449delAGGinsCGC",
"hgvs_p": "p.484",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528262.1",
"strand": false,
"transcript": "ENST00000858204.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 587,
"aa_ref": "G",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3890,
"cdna_start": 1747,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1443,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858205.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1443-2_1443delAGGinsCGC",
"hgvs_p": "p.482",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528263.1",
"strand": false,
"transcript": "ENST00000858205.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 582,
"aa_ref": "G",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2950,
"cdna_start": 1719,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1428,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858216.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1428-2_1428delAGGinsCGC",
"hgvs_p": "p.477",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528275.1",
"strand": false,
"transcript": "ENST00000858216.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 561,
"aa_ref": "G",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3784,
"cdna_start": 1644,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1365,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_053067.3",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1365-2_1365delAGGinsCGC",
"hgvs_p": "p.456",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_444295.1",
"strand": false,
"transcript": "NM_053067.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 561,
"aa_ref": "G",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3127,
"cdna_start": 1622,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1365,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949306.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1365-2_1365delAGGinsCGC",
"hgvs_p": "p.456",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619365.1",
"strand": false,
"transcript": "ENST00000949306.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 559,
"aa_ref": "G",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2664,
"cdna_start": 1434,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1365,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858221.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1365-2_1365delAGGinsCGC",
"hgvs_p": "p.456",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528280.1",
"strand": false,
"transcript": "ENST00000858221.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 559,
"aa_ref": "G",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2357,
"cdna_start": 1662,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1359,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949309.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1359-2_1359delAGGinsCGC",
"hgvs_p": "p.454",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619368.1",
"strand": false,
"transcript": "ENST00000949309.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 554,
"aa_ref": "G",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2304,
"cdna_start": 1606,
"cds_end": null,
"cds_length": 1665,
"cds_start": 1344,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858227.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1344-2_1344delAGGinsCGC",
"hgvs_p": "p.449",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528286.1",
"strand": false,
"transcript": "ENST00000858227.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 536,
"aa_ref": "G",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2268,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1290,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949310.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1290-2_1290delAGGinsCGC",
"hgvs_p": "p.431",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619369.1",
"strand": false,
"transcript": "ENST00000949310.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 456,
"aa_ref": "G",
"aa_start": 350,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2303,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 1371,
"cds_start": 1050,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949308.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1050-2_1050delAGGinsCGC",
"hgvs_p": "p.351",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619367.1",
"strand": false,
"transcript": "ENST00000949308.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 370,
"aa_ref": "G",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3235,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 1113,
"cds_start": 792,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858207.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.792-2_792delAGGinsCGC",
"hgvs_p": "p.265",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528271.1",
"strand": false,
"transcript": "ENST00000858207.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 359,
"aa_ref": "G",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3203,
"cdna_start": 1058,
"cds_end": null,
"cds_length": 1080,
"cds_start": 759,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858206.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.759-2_759delAGGinsCGC",
"hgvs_p": "p.254",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528265.1",
"strand": false,
"transcript": "ENST00000858206.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 342,
"aa_ref": "G",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3162,
"cdna_start": 1022,
"cds_end": null,
"cds_length": 1029,
"cds_start": 708,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858202.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.708-2_708delAGGinsCGC",
"hgvs_p": "p.237",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528261.1",
"strand": false,
"transcript": "ENST00000858202.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 331,
"aa_ref": "G",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2189,
"cdna_start": 958,
"cds_end": null,
"cds_length": 996,
"cds_start": 675,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949307.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.675-2_675delAGGinsCGC",
"hgvs_p": "p.226",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619366.1",
"strand": false,
"transcript": "ENST00000949307.1",
"transcript_support_level": null
},
{
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{
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],
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}
]
}