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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: 22-23160905-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=23160905&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RAB36",
"hgnc_id": 9775,
"hgvs_c": "c.916C>T",
"hgvs_p": "p.Arg306Cys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001349877.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RSPH14",
"hgnc_id": 13437,
"hgvs_c": "c.-53+19013G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "XM_017028774.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_score": 2,
"allele_count_reference_population": 26,
"alphamissense_prediction": null,
"alphamissense_score": 0.7726,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0,
"chr": "22",
"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": 0.9341917037963867,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 267,
"aa_ref": "R",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4990,
"cdna_start": 733,
"cds_end": null,
"cds_length": 804,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_004914.5",
"gene_hgnc_id": 9775,
"gene_symbol": "RAB36",
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263116.8",
"protein_coding": true,
"protein_id": "NP_004905.3",
"strand": true,
"transcript": "NM_004914.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 267,
"aa_ref": "R",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4990,
"cdna_start": 733,
"cds_end": null,
"cds_length": 804,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000263116.8",
"gene_hgnc_id": 9775,
"gene_symbol": "RAB36",
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004914.5",
"protein_coding": true,
"protein_id": "ENSP00000263116.3",
"strand": true,
"transcript": "ENST00000263116.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 245,
"aa_ref": "R",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 936,
"cdna_start": 778,
"cds_end": null,
"cds_length": 738,
"cds_start": 580,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000341989.9",
"gene_hgnc_id": 9775,
"gene_symbol": "RAB36",
"hgvs_c": "c.580C>T",
"hgvs_p": "p.Arg194Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343494.5",
"strand": true,
"transcript": "ENST00000341989.9",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5195,
"cdna_start": 958,
"cds_end": null,
"cds_length": 1074,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001349877.1",
"gene_hgnc_id": 9775,
"gene_symbol": "RAB36",
"hgvs_c": "c.916C>T",
"hgvs_p": "p.Arg306Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336806.1",
"strand": true,
"transcript": "NM_001349877.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 346,
"aa_ref": "P",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5103,
"cdna_start": 866,
"cds_end": null,
"cds_length": 1041,
"cds_start": 824,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001349878.1",
"gene_hgnc_id": 9775,
"gene_symbol": "RAB36",
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Pro275Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336807.1",
"strand": true,
"transcript": "NM_001349878.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 267,
"aa_ref": "R",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3744,
"cdna_start": 805,
"cds_end": null,
"cds_length": 804,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000857885.1",
"gene_hgnc_id": 9775,
"gene_symbol": "RAB36",
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527944.1",
"strand": true,
"transcript": "ENST00000857885.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 267,
"aa_ref": "R",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4130,
"cdna_start": 1191,
"cds_end": null,
"cds_length": 804,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000857886.1",
"gene_hgnc_id": 9775,
"gene_symbol": "RAB36",
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527945.1",
"strand": true,
"transcript": "ENST00000857886.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 211,
"aa_ref": "R",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1729,
"cdna_start": 541,
"cds_end": null,
"cds_length": 636,
"cds_start": 478,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000857887.1",
"gene_hgnc_id": 9775,
"gene_symbol": "RAB36",
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527946.1",
"strand": true,
"transcript": "ENST00000857887.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 370,
"aa_ref": "P",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5195,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1113,
"cds_start": 896,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_006724381.5",
"gene_hgnc_id": 9775,
"gene_symbol": "RAB36",
"hgvs_c": "c.896C>T",
"hgvs_p": "p.Pro299Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006724444.1",
"strand": true,
"transcript": "XM_006724381.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 349,
"aa_ref": "R",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5191,
"cdna_start": 934,
"cds_end": null,
"cds_length": 1050,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011530544.4",
"gene_hgnc_id": 9775,
"gene_symbol": "RAB36",
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Arg298Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528846.1",
"strand": true,
"transcript": "XM_011530544.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 343,
"aa_ref": "P",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5114,
"cdna_start": 857,
"cds_end": null,
"cds_length": 1032,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017029104.2",
"gene_hgnc_id": 9775,
"gene_symbol": "RAB36",
"hgvs_c": "c.815C>T",
"hgvs_p": "p.Pro272Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884593.1",
"strand": true,
"transcript": "XM_017029104.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 341,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1435,
"cdna_start": 958,
"cds_end": null,
"cds_length": 1026,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011530545.3",
"gene_hgnc_id": 9775,
"gene_symbol": "RAB36",
"hgvs_c": "c.916C>T",
"hgvs_p": "p.Arg306Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528847.1",
"strand": true,
"transcript": "XM_011530545.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 336,
"aa_ref": "P",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1415,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1011,
"cds_start": 896,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011530546.3",
"gene_hgnc_id": 9775,
"gene_symbol": "RAB36",
"hgvs_c": "c.896C>T",
"hgvs_p": "p.Pro299Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528848.1",
"strand": true,
"transcript": "XM_011530546.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 330,
"aa_ref": "R",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5134,
"cdna_start": 877,
"cds_end": null,
"cds_length": 993,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047441618.1",
"gene_hgnc_id": 9775,
"gene_symbol": "RAB36",
"hgvs_c": "c.835C>T",
"hgvs_p": "p.Arg279Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297574.1",
"strand": true,
"transcript": "XM_047441618.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 319,
"aa_ref": "P",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5042,
"cdna_start": 785,
"cds_end": null,
"cds_length": 960,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011530547.3",
"gene_hgnc_id": 9775,
"gene_symbol": "RAB36",
"hgvs_c": "c.743C>T",
"hgvs_p": "p.Pro248Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528849.1",
"strand": true,
"transcript": "XM_011530547.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 306,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5062,
"cdna_start": 805,
"cds_end": null,
"cds_length": 921,
"cds_start": 763,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017029105.2",
"gene_hgnc_id": 9775,
"gene_symbol": "RAB36",
"hgvs_c": "c.763C>T",
"hgvs_p": "p.Arg255Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884594.1",
"strand": true,
"transcript": "XM_017029105.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 242,
"aa_ref": "P",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5049,
"cdna_start": 792,
"cds_end": null,
"cds_length": 729,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017029107.2",
"gene_hgnc_id": 9775,
"gene_symbol": "RAB36",
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Pro171Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884596.1",
"strand": true,
"transcript": "XM_017029107.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 242,
"aa_ref": "P",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5303,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 729,
"cds_start": 512,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047441621.1",
"gene_hgnc_id": 9775,
"gene_symbol": "RAB36",
"hgvs_c": "c.512C>T",
"hgvs_p": "p.Pro171Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297577.1",
"strand": true,
"transcript": "XM_047441621.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 188,
"aa_ref": "P",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5165,
"cdna_start": 908,
"cds_end": null,
"cds_length": 567,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011530552.3",
"gene_hgnc_id": 9775,
"gene_symbol": "RAB36",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Pro117Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528854.1",
"strand": true,
"transcript": "XM_011530552.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 298,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1024,
"cdna_start": null,
"cds_end": null,
"cds_length": 897,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047441619.1",
"gene_hgnc_id": 9775,
"gene_symbol": "RAB36",
"hgvs_c": "c.*15C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297575.1",
"strand": true,
"transcript": "XM_047441619.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 269,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 937,
"cdna_start": null,
"cds_end": null,
"cds_length": 810,
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"consequences": [
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]
}