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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: 15-44669814-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=44669814&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 44669814,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000682850.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "NM_001387263.1",
"protein_id": "NP_001374192.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 543,
"cds_start": 839,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 2410,
"mane_select": "ENST00000682850.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "ENST00000682850.1",
"protein_id": "ENSP00000508024.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 543,
"cds_start": 839,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 2410,
"mane_select": "NM_001387263.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "NM_001145112.2",
"protein_id": "NP_001138584.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 543,
"cds_start": 839,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 1937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "NM_001387261.1",
"protein_id": "NP_001374190.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 543,
"cds_start": 839,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "NM_001387262.1",
"protein_id": "NP_001374191.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 543,
"cds_start": 839,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1486,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "ENST00000434130.6",
"protein_id": "ENSP00000416673.1",
"transcript_support_level": 5,
"aa_start": 280,
"aa_end": null,
"aa_length": 543,
"cds_start": 839,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.746G>C",
"hgvs_p": "p.Arg249Pro",
"transcript": "NM_001387260.1",
"protein_id": "NP_001374189.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 512,
"cds_start": 746,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.746G>C",
"hgvs_p": "p.Arg249Pro",
"transcript": "NM_001387264.1",
"protein_id": "NP_001374193.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 512,
"cds_start": 746,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.272G>C",
"hgvs_p": "p.Arg91Pro",
"transcript": "NM_001330283.2",
"protein_id": "NP_001317212.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 354,
"cds_start": 272,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 1852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.272G>C",
"hgvs_p": "p.Arg91Pro",
"transcript": "ENST00000560780.1",
"protein_id": "ENSP00000453695.1",
"transcript_support_level": 2,
"aa_start": 91,
"aa_end": null,
"aa_length": 354,
"cds_start": 272,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 1863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.953G>C",
"hgvs_p": "p.Arg318Pro",
"transcript": "XM_011521336.3",
"protein_id": "XP_011519638.2",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 603,
"cds_start": 953,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1758,
"cdna_end": null,
"cdna_length": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.944G>C",
"hgvs_p": "p.Arg315Pro",
"transcript": "XM_011521337.3",
"protein_id": "XP_011519639.2",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 600,
"cds_start": 944,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 2819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "XM_011521338.4",
"protein_id": "XP_011519640.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 565,
"cds_start": 839,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "XM_011521339.4",
"protein_id": "XP_011519641.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
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"cds_start": 839,
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"cdna_start": 1277,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "XM_011521341.2",
"protein_id": "XP_011519643.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 565,
"cds_start": 839,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro",
"transcript": "XM_047432230.1",
"protein_id": "XP_047288186.1",
"transcript_support_level": null,
"aa_start": 280,
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"cds_start": 839,
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"cdna_start": 1486,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Arg287Pro",
"transcript": "XM_047432231.1",
"protein_id": "XP_047288187.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 550,
"cds_start": 860,
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"cds_length": 1653,
"cdna_start": 1817,
"cdna_end": null,
"cdna_length": 2831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.617G>C",
"hgvs_p": "p.Arg206Pro",
"transcript": "XM_011521342.3",
"protein_id": "XP_011519644.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 491,
"cds_start": 617,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 1809,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.587G>C",
"hgvs_p": "p.Arg196Pro",
"transcript": "XM_011521343.4",
"protein_id": "XP_011519645.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 481,
"cds_start": 587,
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"cdna_start": 1228,
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"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.587G>C",
"hgvs_p": "p.Arg196Pro",
"transcript": "XM_011521344.4",
"protein_id": "XP_011519646.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 481,
"cds_start": 587,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.578G>C",
"hgvs_p": "p.Arg193Pro",
"transcript": "XM_011521345.4",
"protein_id": "XP_011519647.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 478,
"cds_start": 578,
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"cdna_start": 1190,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.518G>C",
"hgvs_p": "p.Arg173Pro",
"transcript": "XM_011521346.3",
"protein_id": "XP_011519648.2",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 458,
"cds_start": 518,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 2392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PATL2",
"gene_hgnc_id": 33630,
"hgvs_c": "c.272G>C",
"hgvs_p": "p.Arg91Pro",
"transcript": "XM_047432232.1",
"protein_id": "XP_047288188.1",
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"aa_start": 91,
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},
{
"aa_ref": null,
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"protein_coding": false,
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},
{
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"strand": false,
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"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 7,
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"gene_symbol": "PATL2",
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}
],
"gene_symbol": "PATL2",
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"dbsnp": "rs569729547",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657194,
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"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9224116802215576,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.458,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8096,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.581,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.08,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000682850.1",
"gene_symbol": "PATL2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.839G>C",
"hgvs_p": "p.Arg280Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}