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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: 17-4539758-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=4539758&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYBBP1A",
"hgnc_id": 7546,
"hgvs_c": "c.3644G>A",
"hgvs_p": "p.Arg1215Lys",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_001105538.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_score": -10,
"allele_count_reference_population": 21,
"alphamissense_prediction": null,
"alphamissense_score": 0.0794,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"chr": "17",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04577338695526123,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "R",
"aa_start": 1215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4558,
"cdna_start": 3704,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3644,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_014520.4",
"gene_hgnc_id": 7546,
"gene_symbol": "MYBBP1A",
"hgvs_c": "c.3644G>A",
"hgvs_p": "p.Arg1215Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000254718.9",
"protein_coding": true,
"protein_id": "NP_055335.2",
"strand": false,
"transcript": "NM_014520.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "R",
"aa_start": 1215,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4558,
"cdna_start": 3704,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3644,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000254718.9",
"gene_hgnc_id": 7546,
"gene_symbol": "MYBBP1A",
"hgvs_c": "c.3644G>A",
"hgvs_p": "p.Arg1215Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014520.4",
"protein_coding": true,
"protein_id": "ENSP00000254718.4",
"strand": false,
"transcript": "ENST00000254718.9",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1251,
"aa_ref": "R",
"aa_start": 1134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3795,
"cdna_start": 3402,
"cds_end": null,
"cds_length": 3756,
"cds_start": 3401,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000573116.5",
"gene_hgnc_id": 7546,
"gene_symbol": "MYBBP1A",
"hgvs_c": "c.3401G>A",
"hgvs_p": "p.Arg1134Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458919.1",
"strand": false,
"transcript": "ENST00000573116.5",
"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": 1607,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000574547.5",
"gene_hgnc_id": 7546,
"gene_symbol": "MYBBP1A",
"hgvs_c": "n.1212G>A",
"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": "ENST00000574547.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1343,
"aa_ref": "R",
"aa_start": 1230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4602,
"cdna_start": 3748,
"cds_end": null,
"cds_length": 4032,
"cds_start": 3689,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000932213.1",
"gene_hgnc_id": 7546,
"gene_symbol": "MYBBP1A",
"hgvs_c": "c.3689G>A",
"hgvs_p": "p.Arg1230Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602272.1",
"strand": false,
"transcript": "ENST00000932213.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1332,
"aa_ref": "R",
"aa_start": 1215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4095,
"cdna_start": 3704,
"cds_end": null,
"cds_length": 3999,
"cds_start": 3644,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001105538.2",
"gene_hgnc_id": 7546,
"gene_symbol": "MYBBP1A",
"hgvs_c": "c.3644G>A",
"hgvs_p": "p.Arg1215Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001099008.1",
"strand": false,
"transcript": "NM_001105538.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1332,
"aa_ref": "R",
"aa_start": 1215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4104,
"cdna_start": 3706,
"cds_end": null,
"cds_length": 3999,
"cds_start": 3644,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000381556.6",
"gene_hgnc_id": 7546,
"gene_symbol": "MYBBP1A",
"hgvs_c": "c.3644G>A",
"hgvs_p": "p.Arg1215Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370968.2",
"strand": false,
"transcript": "ENST00000381556.6",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1325,
"aa_ref": "R",
"aa_start": 1212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4549,
"cdna_start": 3695,
"cds_end": null,
"cds_length": 3978,
"cds_start": 3635,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000932210.1",
"gene_hgnc_id": 7546,
"gene_symbol": "MYBBP1A",
"hgvs_c": "c.3635G>A",
"hgvs_p": "p.Arg1212Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602269.1",
"strand": false,
"transcript": "ENST00000932210.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1324,
"aa_ref": "R",
"aa_start": 1211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4520,
"cdna_start": 3666,
"cds_end": null,
"cds_length": 3975,
"cds_start": 3632,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000896004.1",
"gene_hgnc_id": 7546,
"gene_symbol": "MYBBP1A",
"hgvs_c": "c.3632G>A",
"hgvs_p": "p.Arg1211Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566063.1",
"strand": false,
"transcript": "ENST00000896004.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1318,
"aa_ref": "R",
"aa_start": 1205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4420,
"cdna_start": 3673,
"cds_end": null,
"cds_length": 3957,
"cds_start": 3614,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000932217.1",
"gene_hgnc_id": 7546,
"gene_symbol": "MYBBP1A",
"hgvs_c": "c.3614G>A",
"hgvs_p": "p.Arg1205Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602276.1",
"strand": false,
"transcript": "ENST00000932217.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1314,
"aa_ref": "R",
"aa_start": 1201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4516,
"cdna_start": 3662,
"cds_end": null,
"cds_length": 3945,
"cds_start": 3602,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000932211.1",
"gene_hgnc_id": 7546,
"gene_symbol": "MYBBP1A",
"hgvs_c": "c.3602G>A",
"hgvs_p": "p.Arg1201Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602270.1",
"strand": false,
"transcript": "ENST00000932211.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1305,
"aa_ref": "R",
"aa_start": 1192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4459,
"cdna_start": 3605,
"cds_end": null,
"cds_length": 3918,
"cds_start": 3575,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000896005.1",
"gene_hgnc_id": 7546,
"gene_symbol": "MYBBP1A",
"hgvs_c": "c.3575G>A",
"hgvs_p": "p.Arg1192Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566064.1",
"strand": false,
"transcript": "ENST00000896005.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1305,
"aa_ref": "R",
"aa_start": 1192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4483,
"cdna_start": 3629,
"cds_end": null,
"cds_length": 3918,
"cds_start": 3575,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000932214.1",
"gene_hgnc_id": 7546,
"gene_symbol": "MYBBP1A",
"hgvs_c": "c.3575G>A",
"hgvs_p": "p.Arg1192Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602273.1",
"strand": false,
"transcript": "ENST00000932214.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "R",
"aa_start": 1186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4470,
"cdna_start": 3616,
"cds_end": null,
"cds_length": 3900,
"cds_start": 3557,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000932212.1",
"gene_hgnc_id": 7546,
"gene_symbol": "MYBBP1A",
"hgvs_c": "c.3557G>A",
"hgvs_p": "p.Arg1186Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602271.1",
"strand": false,
"transcript": "ENST00000932212.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1292,
"aa_ref": "R",
"aa_start": 1179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4411,
"cdna_start": 3557,
"cds_end": null,
"cds_length": 3879,
"cds_start": 3536,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000932215.1",
"gene_hgnc_id": 7546,
"gene_symbol": "MYBBP1A",
"hgvs_c": "c.3536G>A",
"hgvs_p": "p.Arg1179Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602274.1",
"strand": false,
"transcript": "ENST00000932215.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "R",
"aa_start": 1152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4330,
"cdna_start": 3476,
"cds_end": null,
"cds_length": 3798,
"cds_start": 3455,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000932216.1",
"gene_hgnc_id": 7546,
"gene_symbol": "MYBBP1A",
"hgvs_c": "c.3455G>A",
"hgvs_p": "p.Arg1152Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602275.1",
"strand": false,
"transcript": "ENST00000932216.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1097,
"aa_ref": "R",
"aa_start": 984,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3881,
"cdna_start": 3027,
"cds_end": null,
"cds_length": 3294,
"cds_start": 2951,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000896003.1",
"gene_hgnc_id": 7546,
"gene_symbol": "MYBBP1A",
"hgvs_c": "c.2951G>A",
"hgvs_p": "p.Arg984Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566062.1",
"strand": false,
"transcript": "ENST00000896003.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1076,
"aa_ref": "R",
"aa_start": 963,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3850,
"cdna_start": 2996,
"cds_end": null,
"cds_length": 3231,
"cds_start": 2888,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011523616.3",
"gene_hgnc_id": 7546,
"gene_symbol": "MYBBP1A",
"hgvs_c": "c.2888G>A",
"hgvs_p": "p.Arg963Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521918.1",
"strand": false,
"transcript": "XM_011523616.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 68,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 588,
"cdna_start": null,
"cds_end": null,
"cds_length": 207,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000572759.1",
"gene_hgnc_id": 7546,
"gene_symbol": "MYBBP1A",
"hgvs_c": "c.*144G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460087.1",
"strand": false,
"transcript": "ENST00000572759.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1120,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4421,
"cdna_start": null,
"cds_end": null,
"cds_length": 3363,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_024450536.2",
"gene_hgnc_id": 7546,
"gene_symbol": "MYBBP1A",
"hgvs_c": "c.*144G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306304.1",
"strand": false,
"transcript": "XM_024450536.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 202,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 613,
"cdna_start": null,
"cds_end": null,
"cds_length": 611,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
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]
}