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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: 13-49523181-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=49523181&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SETDB2-PHF11",
"hgnc_id": null,
"hgvs_c": "c.2059G>A",
"hgvs_p": "p.Glu687Lys",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001320727.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "PHF11",
"hgnc_id": 17024,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001040443.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 37,
"alphamissense_prediction": null,
"alphamissense_score": 0.0946,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "13",
"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": 0.015130043029785156,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 331,
"aa_ref": "E",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1356,
"cdna_start": 626,
"cds_end": null,
"cds_length": 996,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001040443.3",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000378319.8",
"protein_coding": true,
"protein_id": "NP_001035533.1",
"strand": true,
"transcript": "NM_001040443.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 331,
"aa_ref": "E",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1356,
"cdna_start": 626,
"cds_end": null,
"cds_length": 996,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000378319.8",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001040443.3",
"protein_coding": true,
"protein_id": "ENSP00000367570.3",
"strand": true,
"transcript": "ENST00000378319.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 292,
"aa_ref": "E",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1318,
"cdna_start": 588,
"cds_end": null,
"cds_length": 879,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000488958.5",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Glu154Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417539.1",
"strand": true,
"transcript": "ENST00000488958.5",
"transcript_support_level": 1
},
{
"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": 1626,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000465045.5",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "n.460G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000418630.1",
"strand": true,
"transcript": "ENST00000465045.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 825,
"aa_ref": "E",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3714,
"cdna_start": 2984,
"cds_end": null,
"cds_length": 2478,
"cds_start": 2059,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001320727.2",
"gene_hgnc_id": null,
"gene_symbol": "SETDB2-PHF11",
"hgvs_c": "c.2059G>A",
"hgvs_p": "p.Glu687Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307656.1",
"strand": true,
"transcript": "NM_001320727.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 329,
"aa_ref": "E",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2208,
"cdna_start": 1484,
"cds_end": null,
"cds_length": 990,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000941732.1",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611791.1",
"strand": true,
"transcript": "ENST00000941732.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 327,
"aa_ref": "E",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1328,
"cdna_start": 600,
"cds_end": null,
"cds_length": 984,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000873990.1",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Glu189Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544049.1",
"strand": true,
"transcript": "ENST00000873990.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 307,
"aa_ref": "E",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1285,
"cdna_start": 629,
"cds_end": null,
"cds_length": 924,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000873989.1",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544048.1",
"strand": true,
"transcript": "ENST00000873989.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 292,
"aa_ref": "E",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1518,
"cdna_start": 788,
"cds_end": null,
"cds_length": 879,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001040444.3",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Glu154Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035534.1",
"strand": true,
"transcript": "NM_001040444.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 292,
"aa_ref": "E",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1871,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 879,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001419873.1",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Glu154Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001406802.1",
"strand": true,
"transcript": "NM_001419873.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 292,
"aa_ref": "E",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1905,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 879,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001419874.1",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Glu154Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001406803.1",
"strand": true,
"transcript": "NM_001419874.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 292,
"aa_ref": "E",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1709,
"cdna_start": 979,
"cds_end": null,
"cds_length": 879,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001419875.1",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Glu154Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001406804.1",
"strand": true,
"transcript": "NM_001419875.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 292,
"aa_ref": "E",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1743,
"cdna_start": 1013,
"cds_end": null,
"cds_length": 879,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001419876.1",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Glu154Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001406805.1",
"strand": true,
"transcript": "NM_001419876.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 292,
"aa_ref": "E",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1471,
"cdna_start": 736,
"cds_end": null,
"cds_length": 879,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000357596.7",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Glu154Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350209.3",
"strand": true,
"transcript": "ENST00000357596.7",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 285,
"aa_ref": "E",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 903,
"cdna_start": 441,
"cds_end": null,
"cds_length": 858,
"cds_start": 439,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000426879.5",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Glu147Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394883.1",
"strand": true,
"transcript": "ENST00000426879.5",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 249,
"aa_ref": "E",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1105,
"cdna_start": 376,
"cds_end": null,
"cds_length": 750,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000941733.1",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Glu111Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611792.1",
"strand": true,
"transcript": "ENST00000941733.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 167,
"aa_ref": "E",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 610,
"cdna_start": 566,
"cds_end": null,
"cds_length": 504,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000442195.5",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Glu154Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405227.1",
"strand": true,
"transcript": "ENST00000442195.5",
"transcript_support_level": 3
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 132,
"aa_ref": "E",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 795,
"cdna_start": 769,
"cds_end": null,
"cds_length": 399,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000496612.5",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Glu125Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419229.1",
"strand": true,
"transcript": "ENST00000496612.5",
"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": 1077,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000460489.1",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "n.178G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000460489.1",
"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": 572,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000488605.1",
"gene_hgnc_id": 17024,
"gene_symbol": "PHF11",
"hgvs_c": "n.159G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000488605.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 641,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000495157.5",
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}