← 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: X-18827300-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=18827300&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 18827300,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001377996.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Arg592His",
"transcript": "NM_001377996.1",
"protein_id": "NP_001364925.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 653,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1911,
"cdna_end": null,
"cdna_length": 2528,
"mane_select": "ENST00000470157.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Arg592His",
"transcript": "ENST00000470157.2",
"protein_id": "ENSP00000419273.2",
"transcript_support_level": 3,
"aa_start": 592,
"aa_end": null,
"aa_length": 653,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 1911,
"cdna_end": null,
"cdna_length": 2528,
"mane_select": "NM_001377996.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Arg592His",
"transcript": "ENST00000361511.9",
"protein_id": "ENSP00000354871.3",
"transcript_support_level": 1,
"aa_start": 592,
"aa_end": null,
"aa_length": 653,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 2432,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Arg592His",
"transcript": "NM_001377986.2",
"protein_id": "NP_001364915.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 653,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 3358,
"cdna_end": null,
"cdna_length": 3975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Arg592His",
"transcript": "NM_001377993.1",
"protein_id": "NP_001364922.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 653,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 2125,
"cdna_end": null,
"cdna_length": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Arg592His",
"transcript": "NM_001378381.1",
"protein_id": "NP_001365310.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 653,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 3072,
"cdna_end": null,
"cdna_length": 3689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Arg592His",
"transcript": "NM_001389620.1",
"protein_id": "NP_001376549.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 653,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Arg592His",
"transcript": "NM_001389621.1",
"protein_id": "NP_001376550.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 653,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 2268,
"cdna_end": null,
"cdna_length": 2885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Arg592His",
"transcript": "NM_006240.4",
"protein_id": "NP_006231.2",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 653,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 2219,
"cdna_end": null,
"cdna_length": 2836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Arg592His",
"transcript": "ENST00000471570.6",
"protein_id": "ENSP00000509623.1",
"transcript_support_level": 3,
"aa_start": 592,
"aa_end": null,
"aa_length": 653,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 2268,
"cdna_end": null,
"cdna_length": 2632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Arg592His",
"transcript": "ENST00000689646.1",
"protein_id": "ENSP00000509616.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 653,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 2583,
"cdna_end": null,
"cdna_length": 3204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Arg592His",
"transcript": "ENST00000692488.1",
"protein_id": "ENSP00000510505.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 653,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 2421,
"cdna_end": null,
"cdna_length": 3021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Arg592His",
"transcript": "ENST00000472826.6",
"protein_id": "ENSP00000419948.2",
"transcript_support_level": 4,
"aa_start": 592,
"aa_end": null,
"aa_length": 634,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1907,
"cdna_start": 2348,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1691G>A",
"hgvs_p": "p.Arg564His",
"transcript": "NM_152224.2",
"protein_id": "NP_689410.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 625,
"cds_start": 1691,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Arg530His",
"transcript": "NM_001389623.1",
"protein_id": "NP_001376552.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 591,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 2082,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Arg530His",
"transcript": "NM_152226.2",
"protein_id": "NP_689412.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 591,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 2033,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Arg530His",
"transcript": "ENST00000349874.10",
"protein_id": "ENSP00000341892.5",
"transcript_support_level": 5,
"aa_start": 530,
"aa_end": null,
"aa_length": 591,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1580G>A",
"hgvs_p": "p.Arg527His",
"transcript": "NM_001377994.1",
"protein_id": "NP_001364923.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 588,
"cds_start": 1580,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502His",
"transcript": "NM_001377995.1",
"protein_id": "NP_001364924.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 563,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502His",
"transcript": "NM_001389624.1",
"protein_id": "NP_001376553.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 563,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 2696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502His",
"transcript": "ENST00000496616.6",
"protein_id": "ENSP00000508824.1",
"transcript_support_level": 3,
"aa_start": 502,
"aa_end": null,
"aa_length": 563,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 2077,
"cdna_end": null,
"cdna_length": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1499G>A",
"hgvs_p": "p.Arg500His",
"transcript": "NM_001378382.1",
"protein_id": "NP_001365311.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 561,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 3315,
"cdna_end": null,
"cdna_length": 3932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Arg592His",
"transcript": "XM_047442192.1",
"protein_id": "XP_047298148.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 653,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 2590,
"cdna_end": null,
"cdna_length": 3207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Arg592His",
"transcript": "XM_047442193.1",
"protein_id": "XP_047298149.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 653,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 3401,
"cdna_end": null,
"cdna_length": 4018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Arg592His",
"transcript": "XM_047442194.1",
"protein_id": "XP_047298150.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 653,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 4632,
"cdna_end": null,
"cdna_length": 5249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Arg592His",
"transcript": "XM_047442195.1",
"protein_id": "XP_047298151.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 653,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 2869,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502His",
"transcript": "XM_017029612.2",
"protein_id": "XP_016885101.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 563,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 2998,
"cdna_end": null,
"cdna_length": 3615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "n.*90G>A",
"hgvs_p": null,
"transcript": "ENST00000379962.4",
"protein_id": "ENSP00000508462.1",
"transcript_support_level": 2,
"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": 2222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "n.*90G>A",
"hgvs_p": null,
"transcript": "ENST00000379962.4",
"protein_id": "ENSP00000508462.1",
"transcript_support_level": 2,
"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": 2222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"dbsnp": "rs946644740",
"frequency_reference_population": 0.000013702422,
"hom_count_reference_population": 5,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.0000137024,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4319075047969818,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.173,
"revel_prediction": "Benign",
"alphamissense_score": 0.0679,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.671,
"phylop100way_prediction": "Benign",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001377996.1",
"gene_symbol": "PPEF1",
"hgnc_id": 9243,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Arg592His"
}
],
"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
}