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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: 19-54274723-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54274723&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LILRB2",
"hgnc_id": 6606,
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Pro586Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_005874.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 97,
"alphamissense_prediction": null,
"alphamissense_score": 0.09,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "19",
"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": 0.10012829303741455,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 597,
"aa_ref": "P",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2863,
"cdna_start": 1952,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1754,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001080978.4",
"gene_hgnc_id": 6606,
"gene_symbol": "LILRB2",
"hgvs_c": "c.1754C>T",
"hgvs_p": "p.Pro585Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000314446.10",
"protein_coding": true,
"protein_id": "NP_001074447.2",
"strand": false,
"transcript": "NM_001080978.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 597,
"aa_ref": "P",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2863,
"cdna_start": 1952,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1754,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000314446.10",
"gene_hgnc_id": 6606,
"gene_symbol": "LILRB2",
"hgvs_c": "c.1754C>T",
"hgvs_p": "p.Pro585Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001080978.4",
"protein_coding": true,
"protein_id": "ENSP00000319960.5",
"strand": false,
"transcript": "ENST00000314446.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 598,
"aa_ref": "P",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2286,
"cdna_start": 2029,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1757,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000391749.4",
"gene_hgnc_id": 6606,
"gene_symbol": "LILRB2",
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Pro586Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375629.4",
"strand": false,
"transcript": "ENST00000391749.4",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 597,
"aa_ref": "P",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2784,
"cdna_start": 1882,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1754,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000391748.5",
"gene_hgnc_id": 6606,
"gene_symbol": "LILRB2",
"hgvs_c": "c.1754C>T",
"hgvs_p": "p.Pro585Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375628.1",
"strand": false,
"transcript": "ENST00000391748.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 510,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1940,
"cdna_start": null,
"cds_end": null,
"cds_length": 1533,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000391746.5",
"gene_hgnc_id": 6606,
"gene_symbol": "LILRB2",
"hgvs_c": "c.*148C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375626.1",
"strand": false,
"transcript": "ENST00000391746.5",
"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": 2819,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000493242.1",
"gene_hgnc_id": 6606,
"gene_symbol": "LILRB2",
"hgvs_c": "n.2562C>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": "ENST00000493242.1",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 602,
"aa_ref": "P",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2219,
"cdna_start": 1965,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1769,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000872967.1",
"gene_hgnc_id": 6606,
"gene_symbol": "LILRB2",
"hgvs_c": "c.1769C>T",
"hgvs_p": "p.Pro590Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543026.1",
"strand": false,
"transcript": "ENST00000872967.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 599,
"aa_ref": "P",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": 1939,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1760,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000872965.1",
"gene_hgnc_id": 6606,
"gene_symbol": "LILRB2",
"hgvs_c": "c.1760C>T",
"hgvs_p": "p.Pro587Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543024.1",
"strand": false,
"transcript": "ENST00000872965.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 598,
"aa_ref": "P",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2866,
"cdna_start": 1955,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1757,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_005874.5",
"gene_hgnc_id": 6606,
"gene_symbol": "LILRB2",
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Pro586Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005865.3",
"strand": false,
"transcript": "NM_005874.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 598,
"aa_ref": "P",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3320,
"cdna_start": 2409,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1757,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000872963.1",
"gene_hgnc_id": 6606,
"gene_symbol": "LILRB2",
"hgvs_c": "c.1757C>T",
"hgvs_p": "p.Pro586Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543022.1",
"strand": false,
"transcript": "ENST00000872963.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 597,
"aa_ref": "P",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2793,
"cdna_start": 1882,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1754,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001278403.3",
"gene_hgnc_id": 6606,
"gene_symbol": "LILRB2",
"hgvs_c": "c.1754C>T",
"hgvs_p": "p.Pro585Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265332.2",
"strand": false,
"transcript": "NM_001278403.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 597,
"aa_ref": "P",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2722,
"cdna_start": 2112,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1754,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000872966.1",
"gene_hgnc_id": 6606,
"gene_symbol": "LILRB2",
"hgvs_c": "c.1754C>T",
"hgvs_p": "p.Pro585Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543025.1",
"strand": false,
"transcript": "ENST00000872966.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 587,
"aa_ref": "P",
"aa_start": 575,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2332,
"cdna_start": 1935,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1724,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000872964.1",
"gene_hgnc_id": 6606,
"gene_symbol": "LILRB2",
"hgvs_c": "c.1724C>T",
"hgvs_p": "p.Pro575Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543023.1",
"strand": false,
"transcript": "ENST00000872964.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 581,
"aa_ref": "P",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2792,
"cdna_start": 1882,
"cds_end": null,
"cds_length": 1746,
"cds_start": 1706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000949069.1",
"gene_hgnc_id": 6606,
"gene_symbol": "LILRB2",
"hgvs_c": "c.1706C>T",
"hgvs_p": "p.Pro569Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619128.1",
"strand": false,
"transcript": "ENST00000949069.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 580,
"aa_ref": "P",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2270,
"cdna_start": 1901,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1703,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000949070.1",
"gene_hgnc_id": 6606,
"gene_symbol": "LILRB2",
"hgvs_c": "c.1703C>T",
"hgvs_p": "p.Pro568Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619129.1",
"strand": false,
"transcript": "ENST00000949070.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 557,
"aa_ref": "P",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2143,
"cdna_start": 1746,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1634,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000872968.1",
"gene_hgnc_id": 6606,
"gene_symbol": "LILRB2",
"hgvs_c": "c.1634C>T",
"hgvs_p": "p.Pro545Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543027.1",
"strand": false,
"transcript": "ENST00000872968.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 557,
"aa_ref": "P",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2742,
"cdna_start": 1832,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1634,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000949068.1",
"gene_hgnc_id": 6606,
"gene_symbol": "LILRB2",
"hgvs_c": "c.1634C>T",
"hgvs_p": "p.Pro545Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619127.1",
"strand": false,
"transcript": "ENST00000949068.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 556,
"aa_ref": "P",
"aa_start": 544,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2551,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1631,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000949071.1",
"gene_hgnc_id": 6606,
"gene_symbol": "LILRB2",
"hgvs_c": "c.1631C>T",
"hgvs_p": "p.Pro544Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619130.1",
"strand": false,
"transcript": "ENST00000949071.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 482,
"aa_ref": "P",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": 1804,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1409,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001278404.3",
"gene_hgnc_id": 6606,
"gene_symbol": "LILRB2",
"hgvs_c": "c.1409C>T",
"hgvs_p": "p.Pro470Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265333.2",
"strand": false,
"transcript": "NM_001278404.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 482,
"aa_ref": "P",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2773,
"cdna_start": 1872,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1409,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000434421.5",
"gene_hgnc_id": 6606,
"gene_symbol": "LILRB2",
"hgvs_c": "c.1409C>T",
"hgvs_p": "p.Pro470Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410117.1",
"strand": false,
"transcript": "ENST00000434421.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 510,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2631,
"cdna_start": null,
"cds_end": null,
"cds_length": 1533,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001278405.2",
"gene_hgnc_id": 6606,
"gene_symbol": "LILRB2",
"hgvs_c": "c.*148C>T",
"hgvs_p": null,
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{
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}
]
}