← 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: 9-33923947-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=33923947&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 33923947,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018449.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2644A>G",
"hgvs_p": "p.Thr882Ala",
"transcript": "NM_001370062.2",
"protein_id": "NP_001356991.2",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2644,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 2748,
"cdna_end": null,
"cdna_length": 4275,
"mane_select": "ENST00000379238.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370062.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2644A>G",
"hgvs_p": "p.Thr882Ala",
"transcript": "ENST00000379238.7",
"protein_id": "ENSP00000368540.2",
"transcript_support_level": 5,
"aa_start": 882,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2644,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 2748,
"cdna_end": null,
"cdna_length": 4275,
"mane_select": "NM_001370062.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379238.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.1312A>G",
"hgvs_p": null,
"transcript": "ENST00000379235.5",
"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": 2673,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000379235.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2767A>G",
"hgvs_p": "p.Thr923Ala",
"transcript": "ENST00000862381.1",
"protein_id": "ENSP00000532440.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2767,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 2871,
"cdna_end": null,
"cdna_length": 4390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862381.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2674A>G",
"hgvs_p": "p.Thr892Ala",
"transcript": "ENST00000862380.1",
"protein_id": "ENSP00000532439.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2674,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 2778,
"cdna_end": null,
"cdna_length": 4303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862380.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2674A>G",
"hgvs_p": "p.Thr892Ala",
"transcript": "ENST00000932762.1",
"protein_id": "ENSP00000602821.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2674,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 2895,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932762.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2662A>G",
"hgvs_p": "p.Thr888Ala",
"transcript": "ENST00000862374.1",
"protein_id": "ENSP00000532433.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2662,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 2775,
"cdna_end": null,
"cdna_length": 4304,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862374.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2662A>G",
"hgvs_p": "p.Thr888Ala",
"transcript": "ENST00000932759.1",
"protein_id": "ENSP00000602818.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2662,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 2962,
"cdna_end": null,
"cdna_length": 4487,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932759.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2662A>G",
"hgvs_p": "p.Thr888Ala",
"transcript": "ENST00000932767.1",
"protein_id": "ENSP00000602826.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2662,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 2858,
"cdna_end": null,
"cdna_length": 4383,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932767.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2662A>G",
"hgvs_p": "p.Thr888Ala",
"transcript": "ENST00000956121.1",
"protein_id": "ENSP00000626180.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2662,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 2732,
"cdna_end": null,
"cdna_length": 4259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956121.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2662A>G",
"hgvs_p": "p.Thr888Ala",
"transcript": "ENST00000956125.1",
"protein_id": "ENSP00000626184.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2662,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 2920,
"cdna_end": null,
"cdna_length": 4445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956125.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2644A>G",
"hgvs_p": "p.Thr882Ala",
"transcript": "NM_001370059.2",
"protein_id": "NP_001356988.2",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2644,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 2736,
"cdna_end": null,
"cdna_length": 4263,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370059.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2644A>G",
"hgvs_p": "p.Thr882Ala",
"transcript": "NM_018449.4",
"protein_id": "NP_060919.4",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2644,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 2757,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018449.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2644A>G",
"hgvs_p": "p.Thr882Ala",
"transcript": "ENST00000682239.1",
"protein_id": "ENSP00000507293.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2644,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 2925,
"cdna_end": null,
"cdna_length": 4437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682239.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2644A>G",
"hgvs_p": "p.Thr882Ala",
"transcript": "ENST00000684158.1",
"protein_id": "ENSP00000508372.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2644,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 2850,
"cdna_end": null,
"cdna_length": 4362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684158.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2644A>G",
"hgvs_p": "p.Thr882Ala",
"transcript": "ENST00000862367.1",
"protein_id": "ENSP00000532427.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2644,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 2761,
"cdna_end": null,
"cdna_length": 4286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862367.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2644A>G",
"hgvs_p": "p.Thr882Ala",
"transcript": "ENST00000862372.1",
"protein_id": "ENSP00000532432.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2644,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 2904,
"cdna_end": null,
"cdna_length": 4431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862372.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2644A>G",
"hgvs_p": "p.Thr882Ala",
"transcript": "ENST00000932760.1",
"protein_id": "ENSP00000602819.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2644,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 2827,
"cdna_end": null,
"cdna_length": 4352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932760.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2644A>G",
"hgvs_p": "p.Thr882Ala",
"transcript": "ENST00000956118.1",
"protein_id": "ENSP00000626177.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2644,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 2836,
"cdna_end": null,
"cdna_length": 4363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956118.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2644A>G",
"hgvs_p": "p.Thr882Ala",
"transcript": "ENST00000956120.1",
"protein_id": "ENSP00000626179.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2644,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 2878,
"cdna_end": null,
"cdna_length": 4401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956120.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2563A>G",
"hgvs_p": "p.Thr855Ala",
"transcript": "ENST00000862377.1",
"protein_id": "ENSP00000532436.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1092,
"cds_start": 2563,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 2667,
"cdna_end": null,
"cdna_length": 4194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862377.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2530A>G",
"hgvs_p": "p.Thr844Ala",
"transcript": "NM_001370066.2",
"protein_id": "NP_001356995.2",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 1081,
"cds_start": 2530,
"cds_end": null,
"cds_length": 3246,
"cdna_start": 2786,
"cdna_end": null,
"cdna_length": 4313,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370066.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2530A>G",
"hgvs_p": "p.Thr844Ala",
"transcript": "NM_001370068.2",
"protein_id": "NP_001356997.2",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 1081,
"cds_start": 2530,
"cds_end": null,
"cds_length": 3246,
"cdna_start": 2608,
"cdna_end": null,
"cdna_length": 4135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370068.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2503A>G",
"hgvs_p": "p.Thr835Ala",
"transcript": "ENST00000379239.9",
"protein_id": "ENSP00000368541.6",
"transcript_support_level": 2,
"aa_start": 835,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2503,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 2588,
"cdna_end": null,
"cdna_length": 4079,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379239.9"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2494A>G",
"hgvs_p": "p.Thr832Ala",
"transcript": "ENST00000956123.1",
"protein_id": "ENSP00000626182.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 1069,
"cds_start": 2494,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 2600,
"cdna_end": null,
"cdna_length": 4126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956123.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2485A>G",
"hgvs_p": "p.Thr829Ala",
"transcript": "NM_001370067.2",
"protein_id": "NP_001356996.2",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2485,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 2589,
"cdna_end": null,
"cdna_length": 4116,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370067.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2485A>G",
"hgvs_p": "p.Thr829Ala",
"transcript": "NM_020867.2",
"protein_id": "NP_065918.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2485,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 2781,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020867.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2485A>G",
"hgvs_p": "p.Thr829Ala",
"transcript": "ENST00000360802.6",
"protein_id": "ENSP00000354039.2",
"transcript_support_level": 5,
"aa_start": 829,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2485,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 2598,
"cdna_end": null,
"cdna_length": 4110,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360802.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2485A>G",
"hgvs_p": "p.Thr829Ala",
"transcript": "ENST00000862362.1",
"protein_id": "ENSP00000532422.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2485,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 2798,
"cdna_end": null,
"cdna_length": 4323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862362.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2485A>G",
"hgvs_p": "p.Thr829Ala",
"transcript": "ENST00000862370.1",
"protein_id": "ENSP00000532429.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2485,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 2631,
"cdna_end": null,
"cdna_length": 4158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862370.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2485A>G",
"hgvs_p": "p.Thr829Ala",
"transcript": "ENST00000862382.1",
"protein_id": "ENSP00000532441.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2485,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 2645,
"cdna_end": null,
"cdna_length": 4019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862382.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2485A>G",
"hgvs_p": "p.Thr829Ala",
"transcript": "ENST00000932761.1",
"protein_id": "ENSP00000602820.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2485,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 2593,
"cdna_end": null,
"cdna_length": 4120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932761.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2419A>G",
"hgvs_p": "p.Thr807Ala",
"transcript": "ENST00000932763.1",
"protein_id": "ENSP00000602822.1",
"transcript_support_level": null,
"aa_start": 807,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2419,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 2523,
"cdna_end": null,
"cdna_length": 4050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932763.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2404A>G",
"hgvs_p": "p.Thr802Ala",
"transcript": "ENST00000932766.1",
"protein_id": "ENSP00000602825.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2404,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 2489,
"cdna_end": null,
"cdna_length": 4016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932766.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2386A>G",
"hgvs_p": "p.Thr796Ala",
"transcript": "ENST00000862365.1",
"protein_id": "ENSP00000532424.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 1033,
"cds_start": 2386,
"cds_end": null,
"cds_length": 3102,
"cdna_start": 2478,
"cdna_end": null,
"cdna_length": 4003,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862365.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2386A>G",
"hgvs_p": "p.Thr796Ala",
"transcript": "ENST00000862376.1",
"protein_id": "ENSP00000532435.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 1033,
"cds_start": 2386,
"cds_end": null,
"cds_length": 3102,
"cdna_start": 2490,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862376.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2386A>G",
"hgvs_p": "p.Thr796Ala",
"transcript": "ENST00000956122.1",
"protein_id": "ENSP00000626181.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 1033,
"cds_start": 2386,
"cds_end": null,
"cds_length": 3102,
"cdna_start": 2619,
"cdna_end": null,
"cdna_length": 4144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956122.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2371A>G",
"hgvs_p": "p.Thr791Ala",
"transcript": "NM_001370064.2",
"protein_id": "NP_001356993.2",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2371,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 2627,
"cdna_end": null,
"cdna_length": 4154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370064.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2227A>G",
"hgvs_p": "p.Thr743Ala",
"transcript": "ENST00000932765.1",
"protein_id": "ENSP00000602824.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 980,
"cds_start": 2227,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 2331,
"cdna_end": null,
"cdna_length": 3855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932765.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2227A>G",
"hgvs_p": "p.Thr743Ala",
"transcript": "ENST00000956119.1",
"protein_id": "ENSP00000626178.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 980,
"cds_start": 2227,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 2319,
"cdna_end": null,
"cdna_length": 3680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956119.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2161A>G",
"hgvs_p": "p.Thr721Ala",
"transcript": "ENST00000862375.1",
"protein_id": "ENSP00000532434.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 958,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 2268,
"cdna_end": null,
"cdna_length": 3793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862375.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2155A>G",
"hgvs_p": "p.Thr719Ala",
"transcript": "ENST00000956124.1",
"protein_id": "ENSP00000626183.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 956,
"cds_start": 2155,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 2259,
"cdna_end": null,
"cdna_length": 3785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956124.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2149A>G",
"hgvs_p": "p.Thr717Ala",
"transcript": "ENST00000956127.1",
"protein_id": "ENSP00000626186.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 954,
"cds_start": 2149,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 2253,
"cdna_end": null,
"cdna_length": 3392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956127.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2023A>G",
"hgvs_p": "p.Thr675Ala",
"transcript": "ENST00000862378.1",
"protein_id": "ENSP00000532437.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 912,
"cds_start": 2023,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 2127,
"cdna_end": null,
"cdna_length": 3654,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862378.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.2023A>G",
"hgvs_p": "p.Thr675Ala",
"transcript": "ENST00000932764.1",
"protein_id": "ENSP00000602823.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 912,
"cds_start": 2023,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 2241,
"cdna_end": null,
"cdna_length": 3765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932764.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.1897A>G",
"hgvs_p": "p.Thr633Ala",
"transcript": "ENST00000956126.1",
"protein_id": "ENSP00000626185.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 870,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 1999,
"cdna_end": null,
"cdna_length": 3360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956126.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.1894A>G",
"hgvs_p": "p.Thr632Ala",
"transcript": "ENST00000862383.1",
"protein_id": "ENSP00000532442.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 869,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 2007,
"cdna_end": null,
"cdna_length": 3381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862383.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.1765A>G",
"hgvs_p": "p.Thr589Ala",
"transcript": "ENST00000862379.1",
"protein_id": "ENSP00000532438.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 826,
"cds_start": 1765,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1869,
"cdna_end": null,
"cdna_length": 3394,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862379.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.892A>G",
"hgvs_p": "p.Thr298Ala",
"transcript": "ENST00000956128.1",
"protein_id": "ENSP00000626187.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 535,
"cds_start": 892,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 2132,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956128.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "c.361A>G",
"hgvs_p": "p.Thr121Ala",
"transcript": "NM_001282530.2",
"protein_id": "NP_001269459.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 358,
"cds_start": 361,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282530.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.1217A>G",
"hgvs_p": null,
"transcript": "ENST00000474372.1",
"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": 1339,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000474372.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.*1772A>G",
"hgvs_p": null,
"transcript": "ENST00000629575.2",
"protein_id": "ENSP00000486626.1",
"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": 3460,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000629575.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.*2428A>G",
"hgvs_p": null,
"transcript": "ENST00000681980.1",
"protein_id": "ENSP00000508311.1",
"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": 4179,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681980.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.*2556A>G",
"hgvs_p": null,
"transcript": "ENST00000682209.1",
"protein_id": "ENSP00000508211.1",
"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": 4286,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000682209.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.1742A>G",
"hgvs_p": null,
"transcript": "ENST00000682538.1",
"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": 3493,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000682538.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.*1451A>G",
"hgvs_p": null,
"transcript": "ENST00000682914.1",
"protein_id": "ENSP00000508380.1",
"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": 3855,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000682914.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.868A>G",
"hgvs_p": null,
"transcript": "ENST00000682949.1",
"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": 2532,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000682949.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.2589A>G",
"hgvs_p": null,
"transcript": "ENST00000683084.1",
"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": 4165,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000683084.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.*2208A>G",
"hgvs_p": null,
"transcript": "ENST00000683140.1",
"protein_id": "ENSP00000508255.1",
"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": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683140.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.*2511A>G",
"hgvs_p": null,
"transcript": "ENST00000683252.1",
"protein_id": "ENSP00000507246.1",
"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": 4382,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683252.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.*1799A>G",
"hgvs_p": null,
"transcript": "ENST00000683659.1",
"protein_id": "ENSP00000507108.1",
"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": 4103,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683659.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.*1558A>G",
"hgvs_p": null,
"transcript": "ENST00000683717.1",
"protein_id": "ENSP00000508304.1",
"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": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683717.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.*2220A>G",
"hgvs_p": null,
"transcript": "ENST00000684754.1",
"protein_id": "ENSP00000507698.1",
"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": 3781,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000684754.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.2381A>G",
"hgvs_p": null,
"transcript": "NR_163243.2",
"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": 3908,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_163243.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.*1772A>G",
"hgvs_p": null,
"transcript": "ENST00000629575.2",
"protein_id": "ENSP00000486626.1",
"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": 3460,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000629575.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.*2428A>G",
"hgvs_p": null,
"transcript": "ENST00000681980.1",
"protein_id": "ENSP00000508311.1",
"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": 4179,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681980.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.*2556A>G",
"hgvs_p": null,
"transcript": "ENST00000682209.1",
"protein_id": "ENSP00000508211.1",
"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": 4286,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000682209.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.*1451A>G",
"hgvs_p": null,
"transcript": "ENST00000682914.1",
"protein_id": "ENSP00000508380.1",
"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": 3855,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000682914.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.*2208A>G",
"hgvs_p": null,
"transcript": "ENST00000683140.1",
"protein_id": "ENSP00000508255.1",
"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": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683140.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.*2511A>G",
"hgvs_p": null,
"transcript": "ENST00000683252.1",
"protein_id": "ENSP00000507246.1",
"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": 4382,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683252.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.*1799A>G",
"hgvs_p": null,
"transcript": "ENST00000683659.1",
"protein_id": "ENSP00000507108.1",
"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": 4103,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683659.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.*1558A>G",
"hgvs_p": null,
"transcript": "ENST00000683717.1",
"protein_id": "ENSP00000508304.1",
"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": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683717.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"hgvs_c": "n.*2220A>G",
"hgvs_p": null,
"transcript": "ENST00000684754.1",
"protein_id": "ENSP00000507698.1",
"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": 3781,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000684754.1"
}
],
"gene_symbol": "UBAP2",
"gene_hgnc_id": 14185,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4192078113555908,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.139,
"revel_prediction": "Benign",
"alphamissense_score": 0.0745,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.893,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018449.4",
"gene_symbol": "UBAP2",
"hgnc_id": 14185,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2644A>G",
"hgvs_p": "p.Thr882Ala"
}
],
"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
}