← Back to variant description
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: 6-162728252-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=162728252&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 162728252,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_152410.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly",
"transcript": "NM_001080379.2",
"protein_id": "NP_001073848.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 257,
"cds_start": 17,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366888.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080379.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly",
"transcript": "ENST00000366888.7",
"protein_id": "ENSP00000355854.2",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 257,
"cds_start": 17,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001080379.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366888.7"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly",
"transcript": "ENST00000366889.6",
"protein_id": "ENSP00000355855.2",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 257,
"cds_start": 17,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366889.6"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly",
"transcript": "NM_152410.3",
"protein_id": "NP_689623.2",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 296,
"cds_start": 17,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152410.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly",
"transcript": "ENST00000337019.7",
"protein_id": "ENSP00000337946.3",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 296,
"cds_start": 17,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337019.7"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly",
"transcript": "NM_001080378.2",
"protein_id": "NP_001073847.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 257,
"cds_start": 17,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080378.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly",
"transcript": "XM_017010275.3",
"protein_id": "XP_016865764.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 338,
"cds_start": 17,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010275.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly",
"transcript": "XM_017010276.3",
"protein_id": "XP_016865765.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 338,
"cds_start": 17,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010276.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly",
"transcript": "XM_017010277.3",
"protein_id": "XP_016865766.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 338,
"cds_start": 17,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010277.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly",
"transcript": "XM_017010278.3",
"protein_id": "XP_016865767.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 338,
"cds_start": 17,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010278.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly",
"transcript": "XM_017010279.3",
"protein_id": "XP_016865768.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 338,
"cds_start": 17,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010279.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly",
"transcript": "XM_011535461.4",
"protein_id": "XP_011533763.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 269,
"cds_start": 17,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535461.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly",
"transcript": "XM_011535462.4",
"protein_id": "XP_011533764.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 268,
"cds_start": 17,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535462.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly",
"transcript": "XM_017010280.3",
"protein_id": "XP_016865769.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 259,
"cds_start": 17,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010280.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly",
"transcript": "XM_047418208.1",
"protein_id": "XP_047274164.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 257,
"cds_start": 17,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418208.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly",
"transcript": "XM_006715344.5",
"protein_id": "XP_006715407.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 221,
"cds_start": 17,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715344.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly",
"transcript": "XM_005266825.6",
"protein_id": "XP_005266882.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 214,
"cds_start": 17,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266825.6"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly",
"transcript": "XM_011535466.2",
"protein_id": "XP_011533768.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 214,
"cds_start": 17,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535466.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly",
"transcript": "XM_006715345.5",
"protein_id": "XP_006715408.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 212,
"cds_start": 17,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715345.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly",
"transcript": "XM_005266826.6",
"protein_id": "XP_005266883.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 211,
"cds_start": 17,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266826.6"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly",
"transcript": "XM_011535468.3",
"protein_id": "XP_011533770.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 209,
"cds_start": 17,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535468.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly",
"transcript": "XM_011535469.3",
"protein_id": "XP_011533771.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 206,
"cds_start": 17,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535469.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly",
"transcript": "XM_011535471.3",
"protein_id": "XP_011533773.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 172,
"cds_start": 17,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535471.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "n.276A>G",
"hgvs_p": null,
"transcript": "ENST00000542669.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000542669.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"hgvs_c": "n.253A>G",
"hgvs_p": null,
"transcript": "ENST00000544266.1",
"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": "ENST00000544266.1"
}
],
"gene_symbol": "PACRG",
"gene_hgnc_id": 19152,
"dbsnp": "rs766673660",
"frequency_reference_population": 0.000069411995,
"hom_count_reference_population": 0,
"allele_count_reference_population": 112,
"gnomad_exomes_af": 0.0000745892,
"gnomad_genomes_af": 0.0000197088,
"gnomad_exomes_ac": 109,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15215420722961426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.1,
"revel_prediction": "Benign",
"alphamissense_score": 0.1727,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.618,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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_152410.3",
"gene_symbol": "PACRG",
"hgnc_id": 19152,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Glu6Gly"
}
],
"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
}