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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: 11-62835487-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62835487&ref=C&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": "WDR74",
"hgnc_id": 25529,
"hgvs_c": "c.604G>T",
"hgvs_p": "p.Asp202Tyr",
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001369447.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "STX5-DT",
"hgnc_id": 55488,
"hgvs_c": "n.74+3170C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000741088.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.7859,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.13,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9375432729721069,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 385,
"aa_ref": "D",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1219,
"cdna_start": 582,
"cds_end": null,
"cds_length": 1158,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001369450.1",
"gene_hgnc_id": 25529,
"gene_symbol": "WDR74",
"hgvs_c": "c.562G>T",
"hgvs_p": "p.Asp188Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000278856.9",
"protein_coding": true,
"protein_id": "NP_001356379.1",
"strand": false,
"transcript": "NM_001369450.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 385,
"aa_ref": "D",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1219,
"cdna_start": 582,
"cds_end": null,
"cds_length": 1158,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000278856.9",
"gene_hgnc_id": 25529,
"gene_symbol": "WDR74",
"hgvs_c": "c.562G>T",
"hgvs_p": "p.Asp188Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001369450.1",
"protein_coding": true,
"protein_id": "ENSP00000278856.4",
"strand": false,
"transcript": "ENST00000278856.9",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 366,
"aa_ref": "D",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1153,
"cdna_start": 573,
"cds_end": null,
"cds_length": 1101,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000311713.11",
"gene_hgnc_id": 25529,
"gene_symbol": "WDR74",
"hgvs_c": "c.562G>T",
"hgvs_p": "p.Asp188Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000308931.7",
"strand": false,
"transcript": "ENST00000311713.11",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 399,
"aa_ref": "D",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1261,
"cdna_start": 624,
"cds_end": null,
"cds_length": 1200,
"cds_start": 604,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001369447.1",
"gene_hgnc_id": 25529,
"gene_symbol": "WDR74",
"hgvs_c": "c.604G>T",
"hgvs_p": "p.Asp202Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356376.1",
"strand": false,
"transcript": "NM_001369447.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 399,
"aa_ref": "D",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1615,
"cdna_start": 978,
"cds_end": null,
"cds_length": 1200,
"cds_start": 604,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000892916.1",
"gene_hgnc_id": 25529,
"gene_symbol": "WDR74",
"hgvs_c": "c.604G>T",
"hgvs_p": "p.Asp202Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562975.1",
"strand": false,
"transcript": "ENST00000892916.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 399,
"aa_ref": "D",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1629,
"cdna_start": 989,
"cds_end": null,
"cds_length": 1200,
"cds_start": 604,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000934981.1",
"gene_hgnc_id": 25529,
"gene_symbol": "WDR74",
"hgvs_c": "c.604G>T",
"hgvs_p": "p.Asp202Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605040.1",
"strand": false,
"transcript": "ENST00000934981.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 399,
"aa_ref": "D",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1688,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1200,
"cds_start": 604,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000957922.1",
"gene_hgnc_id": 25529,
"gene_symbol": "WDR74",
"hgvs_c": "c.604G>T",
"hgvs_p": "p.Asp202Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627981.1",
"strand": false,
"transcript": "ENST00000957922.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 385,
"aa_ref": "D",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1737,
"cdna_start": 1100,
"cds_end": null,
"cds_length": 1158,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001369451.1",
"gene_hgnc_id": 25529,
"gene_symbol": "WDR74",
"hgvs_c": "c.562G>T",
"hgvs_p": "p.Asp188Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356380.1",
"strand": false,
"transcript": "NM_001369451.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 385,
"aa_ref": "D",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1629,
"cdna_start": 992,
"cds_end": null,
"cds_length": 1158,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001369453.1",
"gene_hgnc_id": 25529,
"gene_symbol": "WDR74",
"hgvs_c": "c.562G>T",
"hgvs_p": "p.Asp188Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356382.1",
"strand": false,
"transcript": "NM_001369453.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 385,
"aa_ref": "D",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1373,
"cdna_start": 730,
"cds_end": null,
"cds_length": 1158,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_018093.3",
"gene_hgnc_id": 25529,
"gene_symbol": "WDR74",
"hgvs_c": "c.562G>T",
"hgvs_p": "p.Asp188Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060563.2",
"strand": false,
"transcript": "NM_018093.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 385,
"aa_ref": "D",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1736,
"cdna_start": 1100,
"cds_end": null,
"cds_length": 1158,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000525239.5",
"gene_hgnc_id": 25529,
"gene_symbol": "WDR74",
"hgvs_c": "c.562G>T",
"hgvs_p": "p.Asp188Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432119.1",
"strand": false,
"transcript": "ENST00000525239.5",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 385,
"aa_ref": "D",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1366,
"cdna_start": 730,
"cds_end": null,
"cds_length": 1158,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000529106.5",
"gene_hgnc_id": 25529,
"gene_symbol": "WDR74",
"hgvs_c": "c.562G>T",
"hgvs_p": "p.Asp188Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435726.1",
"strand": false,
"transcript": "ENST00000529106.5",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 366,
"aa_ref": "D",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1237,
"cdna_start": 651,
"cds_end": null,
"cds_length": 1101,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001307977.1",
"gene_hgnc_id": 25529,
"gene_symbol": "WDR74",
"hgvs_c": "c.562G>T",
"hgvs_p": "p.Asp188Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001294906.1",
"strand": false,
"transcript": "NM_001307977.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 328,
"aa_ref": "D",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1724,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 987,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000525752.5",
"gene_hgnc_id": 25529,
"gene_symbol": "WDR74",
"hgvs_c": "c.391G>T",
"hgvs_p": "p.Asp131Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432113.1",
"strand": false,
"transcript": "ENST00000525752.5",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 250,
"aa_ref": "D",
"aa_start": 53,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1341,
"cdna_start": 704,
"cds_end": null,
"cds_length": 753,
"cds_start": 157,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001369448.1",
"gene_hgnc_id": 25529,
"gene_symbol": "WDR74",
"hgvs_c": "c.157G>T",
"hgvs_p": "p.Asp53Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356377.1",
"strand": false,
"transcript": "NM_001369448.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 250,
"aa_ref": "D",
"aa_start": 53,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1806,
"cdna_start": 1169,
"cds_end": null,
"cds_length": 753,
"cds_start": 157,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001369449.1",
"gene_hgnc_id": 25529,
"gene_symbol": "WDR74",
"hgvs_c": "c.157G>T",
"hgvs_p": "p.Asp53Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356378.1",
"strand": false,
"transcript": "NM_001369449.1",
"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": 487,
"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": "ENST00000538150.1",
"gene_hgnc_id": 25529,
"gene_symbol": "WDR74",
"hgvs_c": "n.240G>T",
"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": "ENST00000538150.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 984,
"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": "ENST00000540620.5",
"gene_hgnc_id": 25529,
"gene_symbol": "WDR74",
"hgvs_c": "n.569G>T",
"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": "ENST00000540620.5",
"transcript_support_level": 3
},
{
"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": 827,
"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": "ENST00000541930.5",
"gene_hgnc_id": 25529,
"gene_symbol": "WDR74",
"hgvs_c": "n.630G>T",
"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": "ENST00000541930.5",
"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": 988,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000542347.5",
"gene_hgnc_id": 25529,
"gene_symbol": "WDR74",
"hgvs_c": "n.652G>T",
"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": "ENST00000542347.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1218,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
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}