← 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: 3-49110192-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49110192&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49110192,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001199161.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4030G>T",
"hgvs_p": "p.Ala1344Ser",
"transcript": "NM_001199161.2",
"protein_id": "NP_001186090.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1384,
"cds_start": 4030,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 4234,
"cdna_end": null,
"cdna_length": 4721,
"mane_select": "ENST00000417901.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4030G>T",
"hgvs_p": "p.Ala1344Ser",
"transcript": "ENST00000417901.6",
"protein_id": "ENSP00000395260.1",
"transcript_support_level": 1,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1384,
"cds_start": 4030,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 4234,
"cdna_end": null,
"cdna_length": 4721,
"mane_select": "NM_001199161.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3721G>T",
"hgvs_p": "p.Ala1241Ser",
"transcript": "ENST00000398888.6",
"protein_id": "ENSP00000381863.2",
"transcript_support_level": 1,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1318,
"cds_start": 3721,
"cds_end": null,
"cds_length": 3957,
"cdna_start": 4040,
"cdna_end": null,
"cdna_length": 4559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3682G>T",
"hgvs_p": "p.Ala1228Ser",
"transcript": "ENST00000398896.6",
"protein_id": "ENSP00000381870.3",
"transcript_support_level": 1,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3682,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3875,
"cdna_end": null,
"cdna_length": 4366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4030G>T",
"hgvs_p": "p.Ala1344Ser",
"transcript": "NM_001389594.1",
"protein_id": "NP_001376523.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1421,
"cds_start": 4030,
"cds_end": null,
"cds_length": 4266,
"cdna_start": 4234,
"cdna_end": null,
"cdna_length": 4755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4030G>T",
"hgvs_p": "p.Ala1344Ser",
"transcript": "NM_001389595.1",
"protein_id": "NP_001376524.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1421,
"cds_start": 4030,
"cds_end": null,
"cds_length": 4266,
"cdna_start": 4234,
"cdna_end": null,
"cdna_length": 4755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4030G>T",
"hgvs_p": "p.Ala1344Ser",
"transcript": "NM_001400288.1",
"protein_id": "NP_001387217.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1421,
"cds_start": 4030,
"cds_end": null,
"cds_length": 4266,
"cdna_start": 4522,
"cdna_end": null,
"cdna_length": 5043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4030G>T",
"hgvs_p": "p.Ala1344Ser",
"transcript": "ENST00000692912.1",
"protein_id": "ENSP00000508993.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1421,
"cds_start": 4030,
"cds_end": null,
"cds_length": 4266,
"cdna_start": 4234,
"cdna_end": null,
"cdna_length": 4755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4027G>T",
"hgvs_p": "p.Ala1343Ser",
"transcript": "NM_001351100.2",
"protein_id": "NP_001338029.1",
"transcript_support_level": null,
"aa_start": 1343,
"aa_end": null,
"aa_length": 1420,
"cds_start": 4027,
"cds_end": null,
"cds_length": 4263,
"cdna_start": 4231,
"cdna_end": null,
"cdna_length": 4752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4024G>T",
"hgvs_p": "p.Ala1342Ser",
"transcript": "NM_001199160.2",
"protein_id": "NP_001186089.1",
"transcript_support_level": null,
"aa_start": 1342,
"aa_end": null,
"aa_length": 1419,
"cds_start": 4024,
"cds_end": null,
"cds_length": 4260,
"cdna_start": 4228,
"cdna_end": null,
"cdna_length": 4749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4024G>T",
"hgvs_p": "p.Ala1342Ser",
"transcript": "ENST00000434032.6",
"protein_id": "ENSP00000401197.2",
"transcript_support_level": 2,
"aa_start": 1342,
"aa_end": null,
"aa_length": 1419,
"cds_start": 4024,
"cds_end": null,
"cds_length": 4260,
"cdna_start": 4236,
"cdna_end": null,
"cdna_length": 4677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4021G>T",
"hgvs_p": "p.Ala1341Ser",
"transcript": "NM_001389602.1",
"protein_id": "NP_001376531.1",
"transcript_support_level": null,
"aa_start": 1341,
"aa_end": null,
"aa_length": 1418,
"cds_start": 4021,
"cds_end": null,
"cds_length": 4257,
"cdna_start": 4225,
"cdna_end": null,
"cdna_length": 4746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3985G>T",
"hgvs_p": "p.Ala1329Ser",
"transcript": "NM_001389603.1",
"protein_id": "NP_001376532.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3985,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 4189,
"cdna_end": null,
"cdna_length": 4710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3985G>T",
"hgvs_p": "p.Ala1329Ser",
"transcript": "ENST00000306026.6",
"protein_id": "ENSP00000303503.6",
"transcript_support_level": 2,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3985,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 4184,
"cdna_end": null,
"cdna_length": 4665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3979G>T",
"hgvs_p": "p.Ala1327Ser",
"transcript": "NM_001389601.1",
"protein_id": "NP_001376530.1",
"transcript_support_level": null,
"aa_start": 1327,
"aa_end": null,
"aa_length": 1404,
"cds_start": 3979,
"cds_end": null,
"cds_length": 4215,
"cdna_start": 4183,
"cdna_end": null,
"cdna_length": 4704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4036G>T",
"hgvs_p": "p.Ala1346Ser",
"transcript": "NM_001389596.1",
"protein_id": "NP_001376525.1",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1386,
"cds_start": 4036,
"cds_end": null,
"cds_length": 4161,
"cdna_start": 4240,
"cdna_end": null,
"cdna_length": 4727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4033G>T",
"hgvs_p": "p.Ala1345Ser",
"transcript": "NM_001400290.1",
"protein_id": "NP_001387219.1",
"transcript_support_level": null,
"aa_start": 1345,
"aa_end": null,
"aa_length": 1385,
"cds_start": 4033,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 4237,
"cdna_end": null,
"cdna_length": 4724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4030G>T",
"hgvs_p": "p.Ala1344Ser",
"transcript": "NM_001351101.2",
"protein_id": "NP_001338030.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1384,
"cds_start": 4030,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 4234,
"cdna_end": null,
"cdna_length": 4721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4030G>T",
"hgvs_p": "p.Ala1344Ser",
"transcript": "NM_001400292.1",
"protein_id": "NP_001387221.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1384,
"cds_start": 4030,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 4522,
"cdna_end": null,
"cdna_length": 5009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4027G>T",
"hgvs_p": "p.Ala1343Ser",
"transcript": "NM_001389604.1",
"protein_id": "NP_001376533.1",
"transcript_support_level": null,
"aa_start": 1343,
"aa_end": null,
"aa_length": 1383,
"cds_start": 4027,
"cds_end": null,
"cds_length": 4152,
"cdna_start": 4231,
"cdna_end": null,
"cdna_length": 4718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4024G>T",
"hgvs_p": "p.Ala1342Ser",
"transcript": "NM_001389598.1",
"protein_id": "NP_001376527.1",
"transcript_support_level": null,
"aa_start": 1342,
"aa_end": null,
"aa_length": 1382,
"cds_start": 4024,
"cds_end": null,
"cds_length": 4149,
"cdna_start": 4228,
"cdna_end": null,
"cdna_length": 4715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4024G>T",
"hgvs_p": "p.Ala1342Ser",
"transcript": "NM_001400293.1",
"protein_id": "NP_001387222.1",
"transcript_support_level": null,
"aa_start": 1342,
"aa_end": null,
"aa_length": 1382,
"cds_start": 4024,
"cds_end": null,
"cds_length": 4149,
"cdna_start": 4516,
"cdna_end": null,
"cdna_length": 5003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4021G>T",
"hgvs_p": "p.Ala1341Ser",
"transcript": "NM_001351099.2",
"protein_id": "NP_001338028.1",
"transcript_support_level": null,
"aa_start": 1341,
"aa_end": null,
"aa_length": 1381,
"cds_start": 4021,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 4225,
"cdna_end": null,
"cdna_length": 4712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4015G>T",
"hgvs_p": "p.Ala1339Ser",
"transcript": "NM_001400294.1",
"protein_id": "NP_001387223.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1379,
"cds_start": 4015,
"cds_end": null,
"cds_length": 4140,
"cdna_start": 4219,
"cdna_end": null,
"cdna_length": 4706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3994G>T",
"hgvs_p": "p.Ala1332Ser",
"transcript": "NM_001199162.2",
"protein_id": "NP_001186091.1",
"transcript_support_level": null,
"aa_start": 1332,
"aa_end": null,
"aa_length": 1372,
"cds_start": 3994,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 4198,
"cdna_end": null,
"cdna_length": 4685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3994G>T",
"hgvs_p": "p.Ala1332Ser",
"transcript": "ENST00000453664.5",
"protein_id": "ENSP00000400090.1",
"transcript_support_level": 2,
"aa_start": 1332,
"aa_end": null,
"aa_length": 1372,
"cds_start": 3994,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 4313,
"cdna_end": null,
"cdna_length": 4719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3991G>T",
"hgvs_p": "p.Ala1331Ser",
"transcript": "NM_001351098.2",
"protein_id": "NP_001338027.1",
"transcript_support_level": null,
"aa_start": 1331,
"aa_end": null,
"aa_length": 1371,
"cds_start": 3991,
"cds_end": null,
"cds_length": 4116,
"cdna_start": 4195,
"cdna_end": null,
"cdna_length": 4682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3988G>T",
"hgvs_p": "p.Ala1330Ser",
"transcript": "NM_001400295.1",
"protein_id": "NP_001387224.1",
"transcript_support_level": null,
"aa_start": 1330,
"aa_end": null,
"aa_length": 1370,
"cds_start": 3988,
"cds_end": null,
"cds_length": 4113,
"cdna_start": 4192,
"cdna_end": null,
"cdna_length": 4679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3874G>T",
"hgvs_p": "p.Ala1292Ser",
"transcript": "NM_001351105.2",
"protein_id": "NP_001338034.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3874,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 4078,
"cdna_end": null,
"cdna_length": 4599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3985G>T",
"hgvs_p": "p.Ala1329Ser",
"transcript": "NM_001351107.2",
"protein_id": "NP_001338036.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3985,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 4189,
"cdna_end": null,
"cdna_length": 4676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3985G>T",
"hgvs_p": "p.Ala1329Ser",
"transcript": "NM_001400296.1",
"protein_id": "NP_001387225.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3985,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 4189,
"cdna_end": null,
"cdna_length": 4676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3985G>T",
"hgvs_p": "p.Ala1329Ser",
"transcript": "NM_001400297.1",
"protein_id": "NP_001387226.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3985,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 4477,
"cdna_end": null,
"cdna_length": 4964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3874G>T",
"hgvs_p": "p.Ala1292Ser",
"transcript": "ENST00000689715.1",
"protein_id": "ENSP00000510256.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3874,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 4078,
"cdna_end": null,
"cdna_length": 4573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3982G>T",
"hgvs_p": "p.Ala1328Ser",
"transcript": "NM_001389599.1",
"protein_id": "NP_001376528.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1368,
"cds_start": 3982,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 4186,
"cdna_end": null,
"cdna_length": 4673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3979G>T",
"hgvs_p": "p.Ala1327Ser",
"transcript": "NM_001389600.1",
"protein_id": "NP_001376529.1",
"transcript_support_level": null,
"aa_start": 1327,
"aa_end": null,
"aa_length": 1367,
"cds_start": 3979,
"cds_end": null,
"cds_length": 4104,
"cdna_start": 4183,
"cdna_end": null,
"cdna_length": 4670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3976G>T",
"hgvs_p": "p.Ala1326Ser",
"transcript": "NM_001400298.1",
"protein_id": "NP_001387227.1",
"transcript_support_level": null,
"aa_start": 1326,
"aa_end": null,
"aa_length": 1366,
"cds_start": 3976,
"cds_end": null,
"cds_length": 4101,
"cdna_start": 4180,
"cdna_end": null,
"cdna_length": 4667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3955G>T",
"hgvs_p": "p.Ala1319Ser",
"transcript": "NM_001400299.1",
"protein_id": "NP_001387228.1",
"transcript_support_level": null,
"aa_start": 1319,
"aa_end": null,
"aa_length": 1359,
"cds_start": 3955,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 4159,
"cdna_end": null,
"cdna_length": 4646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3811G>T",
"hgvs_p": "p.Ala1271Ser",
"transcript": "ENST00000698200.1",
"protein_id": "ENSP00000513604.2",
"transcript_support_level": null,
"aa_start": 1271,
"aa_end": null,
"aa_length": 1348,
"cds_start": 3811,
"cds_end": null,
"cds_length": 4047,
"cdna_start": 4040,
"cdna_end": null,
"cdna_length": 4559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3874G>T",
"hgvs_p": "p.Ala1292Ser",
"transcript": "NM_001389605.1",
"protein_id": "NP_001376534.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3874,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 4078,
"cdna_end": null,
"cdna_length": 4565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3733G>T",
"hgvs_p": "p.Ala1245Ser",
"transcript": "NM_001389597.1",
"protein_id": "NP_001376526.1",
"transcript_support_level": null,
"aa_start": 1245,
"aa_end": null,
"aa_length": 1322,
"cds_start": 3733,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 3937,
"cdna_end": null,
"cdna_length": 4458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3727G>T",
"hgvs_p": "p.Ala1243Ser",
"transcript": "NM_001389606.1",
"protein_id": "NP_001376535.1",
"transcript_support_level": null,
"aa_start": 1243,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3727,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 3931,
"cdna_end": null,
"cdna_length": 4452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3721G>T",
"hgvs_p": "p.Ala1241Ser",
"transcript": "NM_006677.3",
"protein_id": "NP_006668.1",
"transcript_support_level": null,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1318,
"cds_start": 3721,
"cds_end": null,
"cds_length": 3957,
"cdna_start": 3925,
"cdna_end": null,
"cdna_length": 4446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3682G>T",
"hgvs_p": "p.Ala1228Ser",
"transcript": "NM_001389607.1",
"protein_id": "NP_001376536.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1305,
"cds_start": 3682,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 3886,
"cdna_end": null,
"cdna_length": 4407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3733G>T",
"hgvs_p": "p.Ala1245Ser",
"transcript": "NM_001351104.2",
"protein_id": "NP_001338033.1",
"transcript_support_level": null,
"aa_start": 1245,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3733,
"cds_end": null,
"cds_length": 3858,
"cdna_start": 3937,
"cdna_end": null,
"cdna_length": 4424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3727G>T",
"hgvs_p": "p.Ala1243Ser",
"transcript": "NM_001351103.2",
"protein_id": "NP_001338032.1",
"transcript_support_level": null,
"aa_start": 1243,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3727,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3931,
"cdna_end": null,
"cdna_length": 4418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3727G>T",
"hgvs_p": "p.Ala1243Ser",
"transcript": "NM_001351106.2",
"protein_id": "NP_001338035.1",
"transcript_support_level": null,
"aa_start": 1243,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3727,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3931,
"cdna_end": null,
"cdna_length": 4418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3721G>T",
"hgvs_p": "p.Ala1241Ser",
"transcript": "NM_001389608.1",
"protein_id": "NP_001376537.1",
"transcript_support_level": null,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1281,
"cds_start": 3721,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 3925,
"cdna_end": null,
"cdna_length": 4412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3688G>T",
"hgvs_p": "p.Ala1230Ser",
"transcript": "NM_001351108.2",
"protein_id": "NP_001338037.1",
"transcript_support_level": null,
"aa_start": 1230,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3688,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 3892,
"cdna_end": null,
"cdna_length": 4379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3688G>T",
"hgvs_p": "p.Ala1230Ser",
"transcript": "ENST00000691288.1",
"protein_id": "ENSP00000508481.1",
"transcript_support_level": null,
"aa_start": 1230,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3688,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 3892,
"cdna_end": null,
"cdna_length": 4340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3682G>T",
"hgvs_p": "p.Ala1228Ser",
"transcript": "NM_001351102.2",
"protein_id": "NP_001338031.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3682,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3886,
"cdna_end": null,
"cdna_length": 4373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4036G>T",
"hgvs_p": "p.Ala1346Ser",
"transcript": "XM_005264823.4",
"protein_id": "XP_005264880.1",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1423,
"cds_start": 4036,
"cds_end": null,
"cds_length": 4272,
"cdna_start": 4240,
"cdna_end": null,
"cdna_length": 4761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4036G>T",
"hgvs_p": "p.Ala1346Ser",
"transcript": "XM_005264824.3",
"protein_id": "XP_005264881.1",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1423,
"cds_start": 4036,
"cds_end": null,
"cds_length": 4272,
"cdna_start": 4528,
"cdna_end": null,
"cdna_length": 5049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4033G>T",
"hgvs_p": "p.Ala1345Ser",
"transcript": "XM_006712946.4",
"protein_id": "XP_006713009.1",
"transcript_support_level": null,
"aa_start": 1345,
"aa_end": null,
"aa_length": 1422,
"cds_start": 4033,
"cds_end": null,
"cds_length": 4269,
"cdna_start": 4237,
"cdna_end": null,
"cdna_length": 4758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4027G>T",
"hgvs_p": "p.Ala1343Ser",
"transcript": "XM_047447341.1",
"protein_id": "XP_047303297.1",
"transcript_support_level": null,
"aa_start": 1343,
"aa_end": null,
"aa_length": 1420,
"cds_start": 4027,
"cds_end": null,
"cds_length": 4263,
"cdna_start": 4231,
"cdna_end": null,
"cdna_length": 4752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3991G>T",
"hgvs_p": "p.Ala1331Ser",
"transcript": "XM_005264827.3",
"protein_id": "XP_005264884.1",
"transcript_support_level": null,
"aa_start": 1331,
"aa_end": null,
"aa_length": 1408,
"cds_start": 3991,
"cds_end": null,
"cds_length": 4227,
"cdna_start": 4195,
"cdna_end": null,
"cdna_length": 4716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3988G>T",
"hgvs_p": "p.Ala1330Ser",
"transcript": "XM_047447342.1",
"protein_id": "XP_047303298.1",
"transcript_support_level": null,
"aa_start": 1330,
"aa_end": null,
"aa_length": 1407,
"cds_start": 3988,
"cds_end": null,
"cds_length": 4224,
"cdna_start": 4192,
"cdna_end": null,
"cdna_length": 4713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3985G>T",
"hgvs_p": "p.Ala1329Ser",
"transcript": "XM_047447343.1",
"protein_id": "XP_047303299.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3985,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 4189,
"cdna_end": null,
"cdna_length": 4710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3982G>T",
"hgvs_p": "p.Ala1328Ser",
"transcript": "XM_006712947.3",
"protein_id": "XP_006713010.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1405,
"cds_start": 3982,
"cds_end": null,
"cds_length": 4218,
"cdna_start": 4186,
"cdna_end": null,
"cdna_length": 4707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3982G>T",
"hgvs_p": "p.Ala1328Ser",
"transcript": "XM_047447344.1",
"protein_id": "XP_047303300.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1405,
"cds_start": 3982,
"cds_end": null,
"cds_length": 4218,
"cdna_start": 4186,
"cdna_end": null,
"cdna_length": 4707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3976G>T",
"hgvs_p": "p.Ala1326Ser",
"transcript": "XM_047447345.1",
"protein_id": "XP_047303301.1",
"transcript_support_level": null,
"aa_start": 1326,
"aa_end": null,
"aa_length": 1403,
"cds_start": 3976,
"cds_end": null,
"cds_length": 4212,
"cdna_start": 4180,
"cdna_end": null,
"cdna_length": 4701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.4027G>T",
"hgvs_p": "p.Ala1343Ser",
"transcript": "XM_047447346.1",
"protein_id": "XP_047303302.1",
"transcript_support_level": null,
"aa_start": 1343,
"aa_end": null,
"aa_length": 1383,
"cds_start": 4027,
"cds_end": null,
"cds_length": 4152,
"cdna_start": 4231,
"cdna_end": null,
"cdna_length": 4718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3982G>T",
"hgvs_p": "p.Ala1328Ser",
"transcript": "XM_047447347.1",
"protein_id": "XP_047303303.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1368,
"cds_start": 3982,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 4186,
"cdna_end": null,
"cdna_length": 4673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3727G>T",
"hgvs_p": "p.Ala1243Ser",
"transcript": "XM_047447348.1",
"protein_id": "XP_047303304.1",
"transcript_support_level": null,
"aa_start": 1243,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3727,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 3931,
"cdna_end": null,
"cdna_length": 4452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3835G>T",
"hgvs_p": "p.Ala1279Ser",
"transcript": "XM_047447349.1",
"protein_id": "XP_047303305.1",
"transcript_support_level": null,
"aa_start": 1279,
"aa_end": null,
"aa_length": 1319,
"cds_start": 3835,
"cds_end": null,
"cds_length": 3960,
"cdna_start": 4039,
"cdna_end": null,
"cdna_length": 4526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3688G>T",
"hgvs_p": "p.Ala1230Ser",
"transcript": "XM_017005627.2",
"protein_id": "XP_016861116.1",
"transcript_support_level": null,
"aa_start": 1230,
"aa_end": null,
"aa_length": 1307,
"cds_start": 3688,
"cds_end": null,
"cds_length": 3924,
"cdna_start": 3892,
"cdna_end": null,
"cdna_length": 4413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3682G>T",
"hgvs_p": "p.Ala1228Ser",
"transcript": "XM_047447350.1",
"protein_id": "XP_047303306.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1305,
"cds_start": 3682,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 3886,
"cdna_end": null,
"cdna_length": 4407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3676G>T",
"hgvs_p": "p.Ala1226Ser",
"transcript": "XM_047447351.1",
"protein_id": "XP_047303307.1",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3676,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 3880,
"cdna_end": null,
"cdna_length": 4401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3682G>T",
"hgvs_p": "p.Ala1228Ser",
"transcript": "XM_047447352.1",
"protein_id": "XP_047303308.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3682,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3886,
"cdna_end": null,
"cdna_length": 4373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.3676G>T",
"hgvs_p": "p.Ala1226Ser",
"transcript": "XM_047447353.1",
"protein_id": "XP_047303309.1",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1266,
"cds_start": 3676,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 3880,
"cdna_end": null,
"cdna_length": 4367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "n.379G>T",
"hgvs_p": null,
"transcript": "ENST00000483667.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "n.*141G>T",
"hgvs_p": null,
"transcript": "ENST00000693111.1",
"protein_id": "ENSP00000509474.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "n.*141G>T",
"hgvs_p": null,
"transcript": "ENST00000693111.1",
"protein_id": "ENSP00000509474.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"hgvs_c": "c.*164G>T",
"hgvs_p": null,
"transcript": "ENST00000465902.2",
"protein_id": "ENSP00000499646.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 1184,
"cds_start": -4,
"cds_end": null,
"cds_length": 3557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "USP19",
"gene_hgnc_id": 12617,
"dbsnp": "rs2042932794",
"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": 0.1621047556400299,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.125,
"revel_prediction": "Benign",
"alphamissense_score": 0.0856,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.738,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001199161.2",
"gene_symbol": "USP19",
"hgnc_id": 12617,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4030G>T",
"hgvs_p": "p.Ala1344Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}