← 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: 9-127808615-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127808615&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127808615,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004957.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.880A>G",
"hgvs_p": "p.Thr294Ala",
"transcript": "NM_004957.6",
"protein_id": "NP_004948.4",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 587,
"cds_start": 880,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373247.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004957.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.880A>G",
"hgvs_p": "p.Thr294Ala",
"transcript": "ENST00000373247.7",
"protein_id": "ENSP00000362344.2",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 587,
"cds_start": 880,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004957.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373247.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.868A>G",
"hgvs_p": null,
"transcript": "ENST00000460181.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000460181.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.982A>G",
"hgvs_p": "p.Thr328Ala",
"transcript": "ENST00000910448.1",
"protein_id": "ENSP00000580507.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 621,
"cds_start": 982,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910448.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.880A>G",
"hgvs_p": "p.Thr294Ala",
"transcript": "ENST00000910442.1",
"protein_id": "ENSP00000580501.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 604,
"cds_start": 880,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910442.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.913A>G",
"hgvs_p": "p.Thr305Ala",
"transcript": "ENST00000931643.1",
"protein_id": "ENSP00000601702.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 598,
"cds_start": 913,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931643.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.913A>G",
"hgvs_p": "p.Thr305Ala",
"transcript": "ENST00000943704.1",
"protein_id": "ENSP00000613763.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 598,
"cds_start": 913,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943704.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.880A>G",
"hgvs_p": "p.Thr294Ala",
"transcript": "ENST00000931641.1",
"protein_id": "ENSP00000601700.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 594,
"cds_start": 880,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931641.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Thr298Ala",
"transcript": "ENST00000910447.1",
"protein_id": "ENSP00000580506.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 591,
"cds_start": 892,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910447.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.886A>G",
"hgvs_p": "p.Thr296Ala",
"transcript": "ENST00000910449.1",
"protein_id": "ENSP00000580508.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 589,
"cds_start": 886,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910449.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.850A>G",
"hgvs_p": "p.Thr284Ala",
"transcript": "ENST00000910443.1",
"protein_id": "ENSP00000580502.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 577,
"cds_start": 850,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910443.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.826A>G",
"hgvs_p": "p.Thr276Ala",
"transcript": "ENST00000910444.1",
"protein_id": "ENSP00000580503.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 569,
"cds_start": 826,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910444.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.826A>G",
"hgvs_p": "p.Thr276Ala",
"transcript": "ENST00000910445.1",
"protein_id": "ENSP00000580504.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 569,
"cds_start": 826,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910445.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.802A>G",
"hgvs_p": "p.Thr268Ala",
"transcript": "NM_001288803.1",
"protein_id": "NP_001275732.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 561,
"cds_start": 802,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288803.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.802A>G",
"hgvs_p": "p.Thr268Ala",
"transcript": "ENST00000393706.6",
"protein_id": "ENSP00000377309.2",
"transcript_support_level": 2,
"aa_start": 268,
"aa_end": null,
"aa_length": 561,
"cds_start": 802,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393706.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.802A>G",
"hgvs_p": "p.Thr268Ala",
"transcript": "ENST00000943706.1",
"protein_id": "ENSP00000613765.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 561,
"cds_start": 802,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943706.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Thr251Ala",
"transcript": "ENST00000943702.1",
"protein_id": "ENSP00000613761.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 544,
"cds_start": 751,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943702.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.736A>G",
"hgvs_p": "p.Thr246Ala",
"transcript": "ENST00000910446.1",
"protein_id": "ENSP00000580505.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 539,
"cds_start": 736,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910446.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Thr244Ala",
"transcript": "NM_001018078.2",
"protein_id": "NP_001018088.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 537,
"cds_start": 730,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018078.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Thr244Ala",
"transcript": "ENST00000373225.7",
"protein_id": "ENSP00000362322.3",
"transcript_support_level": 2,
"aa_start": 244,
"aa_end": null,
"aa_length": 537,
"cds_start": 730,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373225.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.697A>G",
"hgvs_p": "p.Thr233Ala",
"transcript": "ENST00000943703.1",
"protein_id": "ENSP00000613762.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 526,
"cds_start": 697,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943703.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Thr207Ala",
"transcript": "ENST00000931642.1",
"protein_id": "ENSP00000601701.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 500,
"cds_start": 619,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931642.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.613A>G",
"hgvs_p": "p.Thr205Ala",
"transcript": "ENST00000943705.1",
"protein_id": "ENSP00000613764.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 498,
"cds_start": 613,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943705.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Thr244Ala",
"transcript": "XM_047423126.1",
"protein_id": "XP_047279082.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 537,
"cds_start": 730,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423126.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.880A>G",
"hgvs_p": "p.Thr294Ala",
"transcript": "XM_005251864.5",
"protein_id": "XP_005251921.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 500,
"cds_start": 880,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251864.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Thr244Ala",
"transcript": "XM_047423127.1",
"protein_id": "XP_047279083.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 450,
"cds_start": 730,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423127.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.823-185A>G",
"hgvs_p": null,
"transcript": "ENST00000373228.5",
"protein_id": "ENSP00000362325.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": null,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373228.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.823-185A>G",
"hgvs_p": null,
"transcript": "ENST00000630236.2",
"protein_id": "ENSP00000486766.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": null,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000630236.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "c.673-185A>G",
"hgvs_p": null,
"transcript": "ENST00000431857.5",
"protein_id": "ENSP00000400007.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 263,
"cds_start": null,
"cds_end": null,
"cds_length": 794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431857.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.106A>G",
"hgvs_p": null,
"transcript": "ENST00000467826.6",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000467826.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.999A>G",
"hgvs_p": null,
"transcript": "ENST00000488307.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000488307.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.152A>G",
"hgvs_p": null,
"transcript": "ENST00000488506.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000488506.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.223A>G",
"hgvs_p": null,
"transcript": "ENST00000489522.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000489522.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.970A>G",
"hgvs_p": null,
"transcript": "ENST00000497386.5",
"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": "pseudogene",
"feature": "ENST00000497386.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.928A>G",
"hgvs_p": null,
"transcript": "NR_110170.1",
"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": "NR_110170.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"hgvs_c": "n.-107A>G",
"hgvs_p": null,
"transcript": "ENST00000473536.1",
"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": "pseudogene",
"feature": "ENST00000473536.1"
}
],
"gene_symbol": "FPGS",
"gene_hgnc_id": 3824,
"dbsnp": "rs2230270",
"frequency_reference_population": 0.00011228232,
"hom_count_reference_population": 1,
"allele_count_reference_population": 181,
"gnomad_exomes_af": 0.0000609674,
"gnomad_genomes_af": 0.00060442,
"gnomad_exomes_ac": 89,
"gnomad_genomes_ac": 92,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008345693349838257,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.0629,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.622,
"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": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_004957.6",
"gene_symbol": "FPGS",
"hgnc_id": 3824,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.880A>G",
"hgvs_p": "p.Thr294Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}