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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: 22-18918451-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=18918451&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PRODH",
"hgnc_id": 9453,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Arg431His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_016335.6",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000283809",
"hgnc_id": null,
"hgvs_c": "c.513+7423C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000638240.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 17301,
"alphamissense_prediction": null,
"alphamissense_score": 0.0773,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "22",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Proline dehydrogenase deficiency,Schizophrenia 4,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1 LB:2 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0036971867084503174,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2203,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1292,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_016335.6",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Arg431His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357068.11",
"protein_coding": true,
"protein_id": "NP_057419.5",
"strand": false,
"transcript": "NM_016335.6",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2203,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1292,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000357068.11",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Arg431His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016335.6",
"protein_coding": true,
"protein_id": "ENSP00000349577.6",
"strand": false,
"transcript": "ENST00000357068.11",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 600,
"aa_ref": "R",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2405,
"cdna_start": 1496,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1292,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000610940.4",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Arg431His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480347.1",
"strand": false,
"transcript": "ENST00000610940.4",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 492,
"aa_ref": "R",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1985,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1479,
"cds_start": 968,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000334029.6",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.968G>A",
"hgvs_p": "p.Arg323His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000334726.2",
"strand": false,
"transcript": "ENST00000334029.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 180,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": null,
"cds_end": null,
"cds_length": 543,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638240.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283809",
"hgvs_c": "c.513+7423C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492446.1",
"strand": true,
"transcript": "ENST00000638240.1",
"transcript_support_level": 5
},
{
"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": 4676,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000482858.5",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "n.3772G>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": "ENST00000482858.5",
"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": 3106,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000491604.5",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "n.2201G>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": "ENST00000491604.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 655,
"aa_ref": "R",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2378,
"cdna_start": 1475,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1457,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000916124.1",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586183.1",
"strand": false,
"transcript": "ENST00000916124.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 607,
"aa_ref": "R",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": 1314,
"cds_end": null,
"cds_length": 1824,
"cds_start": 1292,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881003.1",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Arg431His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551062.1",
"strand": false,
"transcript": "ENST00000881003.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 605,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": 1292,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881004.1",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551063.1",
"strand": false,
"transcript": "ENST00000881004.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 598,
"aa_ref": "R",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": 1289,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881005.1",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Arg429His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551064.1",
"strand": false,
"transcript": "ENST00000881005.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 583,
"aa_ref": "R",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2185,
"cdna_start": 1280,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000881001.1",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1241G>A",
"hgvs_p": "p.Arg414His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551060.1",
"strand": false,
"transcript": "ENST00000881001.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 561,
"aa_ref": "R",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2116,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1175,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000881002.1",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1175G>A",
"hgvs_p": "p.Arg392His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551061.1",
"strand": false,
"transcript": "ENST00000881002.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 551,
"aa_ref": "R",
"aa_start": 382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2055,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1145,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000965629.1",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1145G>A",
"hgvs_p": "p.Arg382His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635688.1",
"strand": false,
"transcript": "ENST00000965629.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 546,
"aa_ref": "R",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2039,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1130,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000916125.1",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586184.1",
"strand": false,
"transcript": "ENST00000916125.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 492,
"aa_ref": "R",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2088,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 1479,
"cds_start": 968,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001195226.2",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.968G>A",
"hgvs_p": "p.Arg323His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001182155.2",
"strand": false,
"transcript": "NM_001195226.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 492,
"aa_ref": "R",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2048,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1479,
"cds_start": 968,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001368250.2",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.968G>A",
"hgvs_p": "p.Arg323His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355179.2",
"strand": false,
"transcript": "NM_001368250.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 492,
"aa_ref": "R",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": 1129,
"cds_end": null,
"cds_length": 1479,
"cds_start": 968,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000420436.5",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.968G>A",
"hgvs_p": "p.Arg323His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410805.1",
"strand": false,
"transcript": "ENST00000420436.5",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 484,
"aa_ref": "R",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1455,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916126.1",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.944G>A",
"hgvs_p": "p.Arg315His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586185.1",
"strand": false,
"transcript": "ENST00000916126.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 455,
"aa_ref": "R",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1767,
"cdna_start": 863,
"cds_end": null,
"cds_length": 1368,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000965628.1",
"gene_hgnc_id": 9453,
"gene_symbol": "PRODH",
"hgvs_c": "c.857G>A",
"hgvs_p": "p.Arg286His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635687.1",
"strand": false,
"transcript": "ENST00000965628.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 364,
"aa_ref": "R",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1494,
"cdna_start": 590,
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}