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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: 15-44672425-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=44672425&ref=G&alt=T&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "15",
"pos": 44672425,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000682850.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.478C>A",
"hgvs_p": "p.Arg160Arg",
"transcript": "NM_001387263.1",
"protein_id": "NP_001374192.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 543,
"cds_start": 478,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 2410,
"mane_select": "ENST00000682850.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.478C>A",
"hgvs_p": "p.Arg160Arg",
"transcript": "ENST00000682850.1",
"protein_id": "ENSP00000508024.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 543,
"cds_start": 478,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 2410,
"mane_select": "NM_001387263.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.478C>A",
"hgvs_p": "p.Arg160Arg",
"transcript": "NM_001145112.2",
"protein_id": "NP_001138584.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 543,
"cds_start": 478,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 1937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.478C>A",
"hgvs_p": "p.Arg160Arg",
"transcript": "NM_001387261.1",
"protein_id": "NP_001374190.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 543,
"cds_start": 478,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.478C>A",
"hgvs_p": "p.Arg160Arg",
"transcript": "NM_001387262.1",
"protein_id": "NP_001374191.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 543,
"cds_start": 478,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.478C>A",
"hgvs_p": "p.Arg160Arg",
"transcript": "ENST00000434130.6",
"protein_id": "ENSP00000416673.1",
"transcript_support_level": 5,
"aa_start": 160,
"aa_end": null,
"aa_length": 543,
"cds_start": 478,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.478C>A",
"hgvs_p": "p.Arg160Arg",
"transcript": "NM_001387260.1",
"protein_id": "NP_001374189.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 512,
"cds_start": 478,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.478C>A",
"hgvs_p": "p.Arg160Arg",
"transcript": "NM_001387264.1",
"protein_id": "NP_001374193.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 512,
"cds_start": 478,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.217C>A",
"hgvs_p": "p.Arg73Arg",
"transcript": "ENST00000560110.1",
"protein_id": "ENSP00000453898.1",
"transcript_support_level": 5,
"aa_start": 73,
"aa_end": null,
"aa_length": 124,
"cds_start": 217,
"cds_end": null,
"cds_length": 376,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.592C>A",
"hgvs_p": "p.Arg198Arg",
"transcript": "XM_011521336.3",
"protein_id": "XP_011519638.2",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 603,
"cds_start": 592,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.583C>A",
"hgvs_p": "p.Arg195Arg",
"transcript": "XM_011521337.3",
"protein_id": "XP_011519639.2",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 600,
"cds_start": 583,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1542,
"cdna_end": null,
"cdna_length": 2819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.478C>A",
"hgvs_p": "p.Arg160Arg",
"transcript": "XM_011521338.4",
"protein_id": "XP_011519640.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 565,
"cds_start": 478,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.478C>A",
"hgvs_p": "p.Arg160Arg",
"transcript": "XM_011521339.4",
"protein_id": "XP_011519641.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 565,
"cds_start": 478,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 2193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.478C>A",
"hgvs_p": "p.Arg160Arg",
"transcript": "XM_011521341.2",
"protein_id": "XP_011519643.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 565,
"cds_start": 478,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.478C>A",
"hgvs_p": "p.Arg160Arg",
"transcript": "XM_047432230.1",
"protein_id": "XP_047288186.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 565,
"cds_start": 478,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 2402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.592C>A",
"hgvs_p": "p.Arg198Arg",
"transcript": "XM_047432231.1",
"protein_id": "XP_047288187.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 550,
"cds_start": 592,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 2831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.256C>A",
"hgvs_p": "p.Arg86Arg",
"transcript": "XM_011521342.3",
"protein_id": "XP_011519644.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 491,
"cds_start": 256,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 1809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.226C>A",
"hgvs_p": "p.Arg76Arg",
"transcript": "XM_011521343.4",
"protein_id": "XP_011519645.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 481,
"cds_start": 226,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.226C>A",
"hgvs_p": "p.Arg76Arg",
"transcript": "XM_011521344.4",
"protein_id": "XP_011519646.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 481,
"cds_start": 226,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.217C>A",
"hgvs_p": "p.Arg73Arg",
"transcript": "XM_011521345.4",
"protein_id": "XP_011519647.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 478,
"cds_start": 217,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 2106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "n.388C>A",
"hgvs_p": null,
"transcript": "ENST00000558481.5",
"protein_id": "ENSP00000454201.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.-173C>A",
"hgvs_p": null,
"transcript": "NM_001330283.2",
"protein_id": "NP_001317212.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"cds_start": -4,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.-173C>A",
"hgvs_p": null,
"transcript": "ENST00000560780.1",
"protein_id": "ENSP00000453695.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"cds_start": -4,
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{
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},
{
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}
],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -3,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4_Strong",
"BP7"
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"verdict": "Likely_benign",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}