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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: 19-55092854-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55092854&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 55092854,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017607.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1840G>A",
"hgvs_p": "p.Gly614Arg",
"transcript": "NM_017607.4",
"protein_id": "NP_060077.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 782,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263433.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017607.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1840G>A",
"hgvs_p": "p.Gly614Arg",
"transcript": "ENST00000263433.8",
"protein_id": "ENSP00000263433.1",
"transcript_support_level": 1,
"aa_start": 614,
"aa_end": null,
"aa_length": 782,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017607.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263433.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1702G>A",
"hgvs_p": "p.Gly568Arg",
"transcript": "ENST00000592993.1",
"protein_id": "ENSP00000465957.1",
"transcript_support_level": 1,
"aa_start": 568,
"aa_end": null,
"aa_length": 736,
"cds_start": 1702,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592993.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1837G>A",
"hgvs_p": "p.Gly613Arg",
"transcript": "ENST00000854894.1",
"protein_id": "ENSP00000524953.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 781,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854894.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1837G>A",
"hgvs_p": "p.Gly613Arg",
"transcript": "ENST00000854895.1",
"protein_id": "ENSP00000524954.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 781,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854895.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Gly612Arg",
"transcript": "NM_001271618.2",
"protein_id": "NP_001258547.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 780,
"cds_start": 1834,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271618.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Gly612Arg",
"transcript": "ENST00000954568.1",
"protein_id": "ENSP00000624627.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 780,
"cds_start": 1834,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954568.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1840G>A",
"hgvs_p": "p.Gly614Arg",
"transcript": "ENST00000954574.1",
"protein_id": "ENSP00000624633.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 772,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954574.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1837G>A",
"hgvs_p": "p.Gly613Arg",
"transcript": "ENST00000954565.1",
"protein_id": "ENSP00000624624.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 771,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954565.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1837G>A",
"hgvs_p": "p.Gly613Arg",
"transcript": "ENST00000954571.1",
"protein_id": "ENSP00000624630.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 771,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954571.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1834G>A",
"hgvs_p": "p.Gly612Arg",
"transcript": "ENST00000954566.1",
"protein_id": "ENSP00000624625.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 770,
"cds_start": 1834,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954566.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1786G>A",
"hgvs_p": "p.Gly596Arg",
"transcript": "ENST00000954570.1",
"protein_id": "ENSP00000624629.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 764,
"cds_start": 1786,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954570.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1780G>A",
"hgvs_p": "p.Gly594Arg",
"transcript": "ENST00000954567.1",
"protein_id": "ENSP00000624626.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 762,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954567.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1837G>A",
"hgvs_p": "p.Gly613Arg",
"transcript": "ENST00000954572.1",
"protein_id": "ENSP00000624631.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 733,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954572.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1615G>A",
"hgvs_p": "p.Gly539Arg",
"transcript": "ENST00000435544.6",
"protein_id": "ENSP00000387833.2",
"transcript_support_level": 2,
"aa_start": 539,
"aa_end": null,
"aa_length": 707,
"cds_start": 1615,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435544.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1546G>A",
"hgvs_p": "p.Gly516Arg",
"transcript": "ENST00000954573.1",
"protein_id": "ENSP00000624632.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 684,
"cds_start": 1546,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954573.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Gly515Arg",
"transcript": "ENST00000954575.1",
"protein_id": "ENSP00000624634.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 683,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954575.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1540G>A",
"hgvs_p": "p.Gly514Arg",
"transcript": "ENST00000954569.1",
"protein_id": "ENSP00000624628.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 682,
"cds_start": 1540,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954569.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1837G>A",
"hgvs_p": "p.Gly613Arg",
"transcript": "XM_005259013.5",
"protein_id": "XP_005259070.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 781,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005259013.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1837G>A",
"hgvs_p": "p.Gly613Arg",
"transcript": "XM_011527045.3",
"protein_id": "XP_011525347.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 781,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527045.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.274-201G>A",
"hgvs_p": null,
"transcript": "ENST00000591938.5",
"protein_id": "ENSP00000468148.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 233,
"cds_start": null,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591938.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "n.355G>A",
"hgvs_p": null,
"transcript": "ENST00000588277.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000588277.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "n.749G>A",
"hgvs_p": null,
"transcript": "ENST00000592754.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000592754.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "n.1934G>A",
"hgvs_p": null,
"transcript": "XR_007066879.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007066879.1"
}
],
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"dbsnp": "rs763459937",
"frequency_reference_population": 0.000030113226,
"hom_count_reference_population": 0,
"allele_count_reference_population": 43,
"gnomad_exomes_af": 0.0000301132,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 43,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2184341549873352,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.16,
"revel_prediction": "Benign",
"alphamissense_score": 0.1403,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.861,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017607.4",
"gene_symbol": "PPP1R12C",
"hgnc_id": 14947,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1840G>A",
"hgvs_p": "p.Gly614Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}