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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: 1-92836291-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=92836291&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "RPL5",
"hgnc_id": 10360,
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Phe142Phe",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_000969.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "DIPK1A",
"hgnc_id": 32213,
"hgvs_c": "c.475-3257G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001252273.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6899999976158142,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 297,
"aa_ref": "F",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1028,
"cdna_start": 501,
"cds_end": null,
"cds_length": 894,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_000969.5",
"gene_hgnc_id": 10360,
"gene_symbol": "RPL5",
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Phe142Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000370321.8",
"protein_coding": true,
"protein_id": "NP_000960.2",
"strand": true,
"transcript": "NM_000969.5",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 297,
"aa_ref": "F",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1028,
"cdna_start": 501,
"cds_end": null,
"cds_length": 894,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000370321.8",
"gene_hgnc_id": 10360,
"gene_symbol": "RPL5",
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Phe142Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000969.5",
"protein_coding": true,
"protein_id": "ENSP00000359345.2",
"strand": true,
"transcript": "ENST00000370321.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 162,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 865,
"cdna_start": null,
"cds_end": null,
"cds_length": 489,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000615519.4",
"gene_hgnc_id": 32213,
"gene_symbol": "DIPK1A",
"hgvs_c": "c.475-3257G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483279.1",
"strand": false,
"transcript": "ENST00000615519.4",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 295,
"aa_ref": "F",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1030,
"cdna_start": 512,
"cds_end": null,
"cds_length": 888,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000880515.1",
"gene_hgnc_id": 10360,
"gene_symbol": "RPL5",
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Phe142Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550574.1",
"strand": true,
"transcript": "ENST00000880515.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 294,
"aa_ref": "F",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1020,
"cdna_start": 503,
"cds_end": null,
"cds_length": 885,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000880516.1",
"gene_hgnc_id": 10360,
"gene_symbol": "RPL5",
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Phe142Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550575.1",
"strand": true,
"transcript": "ENST00000880516.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 288,
"aa_ref": "F",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1030,
"cdna_start": 503,
"cds_end": null,
"cds_length": 867,
"cds_start": 399,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000933851.1",
"gene_hgnc_id": 10360,
"gene_symbol": "RPL5",
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Phe133Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603910.1",
"strand": true,
"transcript": "ENST00000933851.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 286,
"aa_ref": "F",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 992,
"cdna_start": 503,
"cds_end": null,
"cds_length": 861,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000880518.1",
"gene_hgnc_id": 10360,
"gene_symbol": "RPL5",
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Phe142Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550577.1",
"strand": true,
"transcript": "ENST00000880518.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 284,
"aa_ref": "F",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1000,
"cdna_start": 473,
"cds_end": null,
"cds_length": 855,
"cds_start": 387,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000880514.1",
"gene_hgnc_id": 10360,
"gene_symbol": "RPL5",
"hgvs_c": "c.387C>T",
"hgvs_p": "p.Phe129Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550573.1",
"strand": true,
"transcript": "ENST00000880514.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 252,
"aa_ref": "F",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 943,
"cdna_start": 416,
"cds_end": null,
"cds_length": 759,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933849.1",
"gene_hgnc_id": 10360,
"gene_symbol": "RPL5",
"hgvs_c": "c.291C>T",
"hgvs_p": "p.Phe97Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603908.1",
"strand": true,
"transcript": "ENST00000933849.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 237,
"aa_ref": "F",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 896,
"cdna_start": 458,
"cds_end": null,
"cds_length": 714,
"cds_start": 276,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000645300.1",
"gene_hgnc_id": 10360,
"gene_symbol": "RPL5",
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Phe92Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495589.1",
"strand": true,
"transcript": "ENST00000645300.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 235,
"aa_ref": "F",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 845,
"cdna_start": 318,
"cds_end": null,
"cds_length": 708,
"cds_start": 240,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000933852.1",
"gene_hgnc_id": 10360,
"gene_symbol": "RPL5",
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Phe80Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603911.1",
"strand": true,
"transcript": "ENST00000933852.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 209,
"aa_ref": "F",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 767,
"cdna_start": 240,
"cds_end": null,
"cds_length": 630,
"cds_start": 162,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000933853.1",
"gene_hgnc_id": 10360,
"gene_symbol": "RPL5",
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Phe54Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603912.1",
"strand": true,
"transcript": "ENST00000933853.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 190,
"aa_ref": "F",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 706,
"cdna_start": 180,
"cds_end": null,
"cds_length": 573,
"cds_start": 105,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000880517.1",
"gene_hgnc_id": 10360,
"gene_symbol": "RPL5",
"hgvs_c": "c.105C>T",
"hgvs_p": "p.Phe35Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550576.1",
"strand": true,
"transcript": "ENST00000880517.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 129,
"aa_ref": "F",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 681,
"cdna_start": 566,
"cds_end": null,
"cds_length": 391,
"cds_start": 276,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000315741.5",
"gene_hgnc_id": 10360,
"gene_symbol": "RPL5",
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Phe92Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359338.2",
"strand": true,
"transcript": "ENST00000315741.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 241,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 860,
"cdna_start": null,
"cds_end": null,
"cds_length": 726,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933854.1",
"gene_hgnc_id": 10360,
"gene_symbol": "RPL5",
"hgvs_c": "c.325-67C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603913.1",
"strand": true,
"transcript": "ENST00000933854.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 170,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 629,
"cdna_start": null,
"cds_end": null,
"cds_length": 513,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000645119.1",
"gene_hgnc_id": 10360,
"gene_symbol": "RPL5",
"hgvs_c": "c.324+1378C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493811.1",
"strand": true,
"transcript": "ENST00000645119.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 162,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 813,
"cdna_start": null,
"cds_end": null,
"cds_length": 489,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001252273.2",
"gene_hgnc_id": 32213,
"gene_symbol": "DIPK1A",
"hgvs_c": "c.475-3257G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001239202.1",
"strand": false,
"transcript": "NM_001252273.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 125,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 477,
"cdna_start": null,
"cds_end": null,
"cds_length": 378,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880519.1",
"gene_hgnc_id": 10360,
"gene_symbol": "RPL5",
"hgvs_c": "c.189+2631C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550578.1",
"strand": true,
"transcript": "ENST00000880519.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 63,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 355,
"cdna_start": null,
"cds_end": null,
"cds_length": 192,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933850.1",
"gene_hgnc_id": 10360,
"gene_symbol": "RPL5",
"hgvs_c": "c.3+4174C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603909.1",
"strand": true,
"transcript": "ENST00000933850.1",
"transcript_support_level": null
},
{
"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": 694,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000470843.5",
"gene_hgnc_id": 10360,
"gene_symbol": "RPL5",
"hgvs_c": "n.*388C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000473675.1",
"strand": true,
"transcript": "ENST00000470843.5",
"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": 591,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
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