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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: 12-106971132-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=106971132&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 106971132,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152261.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "c.92A>C",
"hgvs_p": "p.Gln31Pro",
"transcript": "NM_152261.4",
"protein_id": "NP_689474.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 116,
"cds_start": 92,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000280756.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152261.4"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "c.92A>C",
"hgvs_p": "p.Gln31Pro",
"transcript": "ENST00000280756.9",
"protein_id": "ENSP00000280756.4",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 116,
"cds_start": 92,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152261.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280756.9"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "c.176A>C",
"hgvs_p": "p.Gln59Pro",
"transcript": "ENST00000962025.1",
"protein_id": "ENSP00000632084.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 144,
"cds_start": 176,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962025.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "c.110A>C",
"hgvs_p": "p.Gln37Pro",
"transcript": "ENST00000962019.1",
"protein_id": "ENSP00000632078.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 122,
"cds_start": 110,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962019.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "c.110A>C",
"hgvs_p": "p.Gln37Pro",
"transcript": "ENST00000962021.1",
"protein_id": "ENSP00000632080.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 122,
"cds_start": 110,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962021.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "c.92A>C",
"hgvs_p": "p.Gln31Pro",
"transcript": "NM_001319661.2",
"protein_id": "NP_001306590.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 116,
"cds_start": 92,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319661.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "c.92A>C",
"hgvs_p": "p.Gln31Pro",
"transcript": "NM_001319662.2",
"protein_id": "NP_001306591.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 116,
"cds_start": 92,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319662.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "c.92A>C",
"hgvs_p": "p.Gln31Pro",
"transcript": "NM_001319663.2",
"protein_id": "NP_001306592.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 116,
"cds_start": 92,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319663.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "c.92A>C",
"hgvs_p": "p.Gln31Pro",
"transcript": "NM_001319664.2",
"protein_id": "NP_001306593.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 116,
"cds_start": 92,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319664.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "c.92A>C",
"hgvs_p": "p.Gln31Pro",
"transcript": "ENST00000547081.1",
"protein_id": "ENSP00000449106.1",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 116,
"cds_start": 92,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547081.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "c.92A>C",
"hgvs_p": "p.Gln31Pro",
"transcript": "ENST00000547242.5",
"protein_id": "ENSP00000446537.1",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 116,
"cds_start": 92,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547242.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "c.92A>C",
"hgvs_p": "p.Gln31Pro",
"transcript": "ENST00000548125.5",
"protein_id": "ENSP00000449785.1",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 116,
"cds_start": 92,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548125.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "c.92A>C",
"hgvs_p": "p.Gln31Pro",
"transcript": "ENST00000550344.5",
"protein_id": "ENSP00000446717.1",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 116,
"cds_start": 92,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550344.5"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "c.92A>C",
"hgvs_p": "p.Gln31Pro",
"transcript": "ENST00000551813.1",
"protein_id": "ENSP00000450350.1",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 116,
"cds_start": 92,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551813.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "c.92A>C",
"hgvs_p": "p.Gln31Pro",
"transcript": "ENST00000906344.1",
"protein_id": "ENSP00000576403.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 116,
"cds_start": 92,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906344.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "c.92A>C",
"hgvs_p": "p.Gln31Pro",
"transcript": "ENST00000906345.1",
"protein_id": "ENSP00000576404.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 116,
"cds_start": 92,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906345.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "c.92A>C",
"hgvs_p": "p.Gln31Pro",
"transcript": "ENST00000906346.1",
"protein_id": "ENSP00000576405.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 116,
"cds_start": 92,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906346.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "c.92A>C",
"hgvs_p": "p.Gln31Pro",
"transcript": "ENST00000906347.1",
"protein_id": "ENSP00000576406.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 116,
"cds_start": 92,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906347.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "c.92A>C",
"hgvs_p": "p.Gln31Pro",
"transcript": "ENST00000906348.1",
"protein_id": "ENSP00000576407.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 116,
"cds_start": 92,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906348.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "c.92A>C",
"hgvs_p": "p.Gln31Pro",
"transcript": "ENST00000906349.1",
"protein_id": "ENSP00000576408.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 116,
"cds_start": 92,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906349.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "c.92A>C",
"hgvs_p": "p.Gln31Pro",
"transcript": "ENST00000920871.1",
"protein_id": "ENSP00000590930.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 116,
"cds_start": 92,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920871.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "c.92A>C",
"hgvs_p": "p.Gln31Pro",
"transcript": "ENST00000920872.1",
"protein_id": "ENSP00000590931.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 116,
"cds_start": 92,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920872.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
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{
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{
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{
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{
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{
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],
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"transcript": "NM_001319666.2",
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"biotype": "protein_coding",
"feature": "NM_001319666.2"
},
{
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"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 5,
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"gene_symbol": "TMEM263",
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"hgvs_c": "c.*40A>C",
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"transcript": "ENST00000551489.5",
"protein_id": "ENSP00000450304.1",
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"cds_end": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000551489.5"
}
],
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"dbsnp": "rs781617435",
"frequency_reference_population": 0.000072257186,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000722572,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16928133368492126,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.121,
"revel_prediction": "Benign",
"alphamissense_score": 0.1421,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.755,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_152261.4",
"gene_symbol": "TMEM263",
"hgnc_id": 28281,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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],
"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
}