← 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: 2-23971397-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=23971397&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 23971397,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_181713.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "NM_181713.4",
"protein_id": "NP_859064.2",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 6022,
"mane_select": "ENST00000309033.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181713.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "ENST00000309033.5",
"protein_id": "ENSP00000312107.4",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 6022,
"mane_select": "NM_181713.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309033.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "n.625G>T",
"hgvs_p": null,
"transcript": "ENST00000446425.2",
"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": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000446425.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "ENST00000404924.5",
"protein_id": "ENSP00000385525.1",
"transcript_support_level": 2,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404924.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "ENST00000906993.1",
"protein_id": "ENSP00000577052.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 2265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906993.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "ENST00000906994.1",
"protein_id": "ENSP00000577053.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906994.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "ENST00000906995.1",
"protein_id": "ENSP00000577054.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906995.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "ENST00000906996.1",
"protein_id": "ENSP00000577055.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906996.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "ENST00000906997.1",
"protein_id": "ENSP00000577056.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906997.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "ENST00000906999.1",
"protein_id": "ENSP00000577058.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 479,
"cdna_end": null,
"cdna_length": 2055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906999.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "ENST00000907000.1",
"protein_id": "ENSP00000577059.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907000.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "ENST00000907001.1",
"protein_id": "ENSP00000577060.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 1972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907001.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "ENST00000907002.1",
"protein_id": "ENSP00000577061.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907002.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "ENST00000907003.1",
"protein_id": "ENSP00000577062.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 1363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907003.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "ENST00000912493.1",
"protein_id": "ENSP00000582552.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 2048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912493.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "ENST00000912494.1",
"protein_id": "ENSP00000582553.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912494.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "ENST00000912495.1",
"protein_id": "ENSP00000582554.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912495.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "ENST00000912496.1",
"protein_id": "ENSP00000582555.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912496.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "ENST00000912497.1",
"protein_id": "ENSP00000582556.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 2202,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912497.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "ENST00000951750.1",
"protein_id": "ENSP00000621809.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 1995,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951750.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "ENST00000951751.1",
"protein_id": "ENSP00000621810.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 2070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951751.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "ENST00000951752.1",
"protein_id": "ENSP00000621811.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951752.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.88G>T",
"hgvs_p": "p.Ala30Ser",
"transcript": "ENST00000912498.1",
"protein_id": "ENSP00000582557.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 234,
"cds_start": 88,
"cds_end": null,
"cds_length": 705,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912498.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "ENST00000951753.1",
"protein_id": "ENSP00000621812.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 213,
"cds_start": 163,
"cds_end": null,
"cds_length": 642,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 1367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951753.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "ENST00000906998.1",
"protein_id": "ENSP00000577057.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 206,
"cds_start": 163,
"cds_end": null,
"cds_length": 621,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 1801,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906998.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "ENST00000912500.1",
"protein_id": "ENSP00000582559.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 206,
"cds_start": 163,
"cds_end": null,
"cds_length": 621,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 1848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912500.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "XM_005264166.6",
"protein_id": "XP_005264223.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 6174,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264166.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "XM_005264167.6",
"protein_id": "XP_005264224.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 5958,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264167.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "XM_005264168.6",
"protein_id": "XP_005264225.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 6311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264168.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "XM_005264169.5",
"protein_id": "XP_005264226.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 6008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264169.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "XM_011532633.4",
"protein_id": "XP_011530935.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 6297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532633.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "XM_047443579.1",
"protein_id": "XP_047299535.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 6292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443579.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "XM_047443580.1",
"protein_id": "XP_047299536.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 259,
"cds_start": 163,
"cds_end": null,
"cds_length": 780,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 6131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443580.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "XM_047443581.1",
"protein_id": "XP_047299537.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 240,
"cds_start": 163,
"cds_end": null,
"cds_length": 723,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443581.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser",
"transcript": "XM_017003517.3",
"protein_id": "XP_016859006.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 201,
"cds_start": 163,
"cds_end": null,
"cds_length": 606,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 1956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003517.3"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "c.138+25G>T",
"hgvs_p": null,
"transcript": "ENST00000912499.1",
"protein_id": "ENSP00000582558.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912499.1"
},
{
"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": "UBXN2A",
"gene_hgnc_id": 27265,
"hgvs_c": "n.34G>T",
"hgvs_p": null,
"transcript": "ENST00000479859.1",
"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": 403,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479859.1"
}
],
"gene_symbol": "UBXN2A",
"gene_hgnc_id": 27265,
"dbsnp": "rs772925376",
"frequency_reference_population": 0.0000021501646,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000215016,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.038735538721084595,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.2199999988079071,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.014,
"revel_prediction": "Benign",
"alphamissense_score": 0.0721,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.142,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.22,
"spliceai_max_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_181713.4",
"gene_symbol": "UBXN2A",
"hgnc_id": 27265,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Ala55Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}