← 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: 17-59049297-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=59049297&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 59049297,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001353084.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "NM_015294.6",
"protein_id": "NP_056109.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 964,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262294.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015294.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "ENST00000262294.12",
"protein_id": "ENSP00000262294.7",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 964,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015294.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262294.12"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "ENST00000393066.7",
"protein_id": "ENSP00000376785.3",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 964,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393066.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "n.*1283C>T",
"hgvs_p": null,
"transcript": "ENST00000577554.5",
"protein_id": "ENSP00000462340.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000577554.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "n.*1283C>T",
"hgvs_p": null,
"transcript": "ENST00000577554.5",
"protein_id": "ENSP00000462340.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000577554.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1462C>T",
"hgvs_p": "p.Arg488*",
"transcript": "ENST00000938636.1",
"protein_id": "ENSP00000608695.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 981,
"cds_start": 1462,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938636.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1432C>T",
"hgvs_p": "p.Arg478*",
"transcript": "ENST00000964654.1",
"protein_id": "ENSP00000634713.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 980,
"cds_start": 1432,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964654.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "NM_001353084.2",
"protein_id": "NP_001340013.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 973,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353084.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "ENST00000885247.1",
"protein_id": "ENSP00000555306.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 973,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885247.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.Arg475*",
"transcript": "ENST00000964648.1",
"protein_id": "ENSP00000634707.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 968,
"cds_start": 1423,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964648.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "NM_001005207.5",
"protein_id": "NP_001005207.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 964,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005207.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Arg454*",
"transcript": "ENST00000885260.1",
"protein_id": "ENSP00000555319.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 956,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885260.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Arg454*",
"transcript": "NM_001353086.2",
"protein_id": "NP_001340015.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 947,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353086.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Arg454*",
"transcript": "ENST00000885243.1",
"protein_id": "ENSP00000555302.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 947,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885243.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1348C>T",
"hgvs_p": "p.Arg450*",
"transcript": "ENST00000885246.1",
"protein_id": "ENSP00000555305.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 943,
"cds_start": 1348,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885246.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437*",
"transcript": "NM_001353082.2",
"protein_id": "NP_001340011.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 939,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353082.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437*",
"transcript": "ENST00000885256.1",
"protein_id": "ENSP00000555315.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 939,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885256.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437*",
"transcript": "NM_001320987.3",
"protein_id": "NP_001307916.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 930,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320987.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437*",
"transcript": "ENST00000393065.6",
"protein_id": "ENSP00000376784.2",
"transcript_support_level": 2,
"aa_start": 437,
"aa_end": null,
"aa_length": 930,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393065.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "ENST00000885250.1",
"protein_id": "ENSP00000555309.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 930,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885250.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "NM_001320988.3",
"protein_id": "NP_001307917.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 925,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320988.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "NM_001320989.3",
"protein_id": "NP_001307918.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 925,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320989.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "ENST00000885244.1",
"protein_id": "ENSP00000555303.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 925,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885244.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1294C>T",
"hgvs_p": "p.Arg432*",
"transcript": "ENST00000885254.1",
"protein_id": "ENSP00000555313.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 925,
"cds_start": 1294,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885254.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1432C>T",
"hgvs_p": "p.Arg478*",
"transcript": "ENST00000938627.1",
"protein_id": "ENSP00000608686.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 923,
"cds_start": 1432,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938627.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "ENST00000938624.1",
"protein_id": "ENSP00000608683.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 922,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938624.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Arg420*",
"transcript": "ENST00000938626.1",
"protein_id": "ENSP00000608685.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 922,
"cds_start": 1258,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938626.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "ENST00000885249.1",
"protein_id": "ENSP00000555308.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 921,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885249.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "ENST00000938633.1",
"protein_id": "ENSP00000608692.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 916,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938633.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Arg420*",
"transcript": "ENST00000938630.1",
"protein_id": "ENSP00000608689.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 913,
"cds_start": 1258,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938630.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1252C>T",
"hgvs_p": "p.Arg418*",
"transcript": "ENST00000964646.1",
"protein_id": "ENSP00000634705.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 911,
"cds_start": 1252,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964646.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Arg454*",
"transcript": "ENST00000885255.1",
"protein_id": "ENSP00000555314.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 908,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885255.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1348C>T",
"hgvs_p": "p.Arg450*",
"transcript": "ENST00000938628.1",
"protein_id": "ENSP00000608687.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 904,
"cds_start": 1348,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938628.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Arg454*",
"transcript": "ENST00000964649.1",
"protein_id": "ENSP00000634708.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 904,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964649.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1201C>T",
"hgvs_p": "p.Arg401*",
"transcript": "ENST00000938625.1",
"protein_id": "ENSP00000608684.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 903,
"cds_start": 1201,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938625.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1348C>T",
"hgvs_p": "p.Arg450*",
"transcript": "ENST00000964653.1",
"protein_id": "ENSP00000634712.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 900,
"cds_start": 1348,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964653.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "ENST00000938631.1",
"protein_id": "ENSP00000608690.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 899,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938631.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Arg454*",
"transcript": "ENST00000938632.1",
"protein_id": "ENSP00000608691.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 899,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938632.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1201C>T",
"hgvs_p": "p.Arg401*",
"transcript": "ENST00000885253.1",
"protein_id": "ENSP00000555312.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 894,
"cds_start": 1201,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885253.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437*",
"transcript": "ENST00000885252.1",
"protein_id": "ENSP00000555311.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 891,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885252.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1180C>T",
"hgvs_p": "p.Arg394*",
"transcript": "ENST00000885251.1",
"protein_id": "ENSP00000555310.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 887,
"cds_start": 1180,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885251.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437*",
"transcript": "ENST00000938634.1",
"protein_id": "ENSP00000608693.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 887,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938634.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "ENST00000885259.1",
"protein_id": "ENSP00000555318.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 882,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885259.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437*",
"transcript": "ENST00000964650.1",
"protein_id": "ENSP00000634709.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 882,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964650.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "ENST00000938635.1",
"protein_id": "ENSP00000608694.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 877,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938635.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Arg420*",
"transcript": "ENST00000885245.1",
"protein_id": "ENSP00000555304.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 870,
"cds_start": 1258,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885245.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1099C>T",
"hgvs_p": "p.Arg367*",
"transcript": "ENST00000938637.1",
"protein_id": "ENSP00000608696.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 860,
"cds_start": 1099,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938637.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317*",
"transcript": "NM_001353085.2",
"protein_id": "NP_001340014.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 810,
"cds_start": 949,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353085.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349*",
"transcript": "NM_001320990.3",
"protein_id": "NP_001307919.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 803,
"cds_start": 1045,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320990.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "ENST00000964652.1",
"protein_id": "ENSP00000634711.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 796,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964652.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295*",
"transcript": "ENST00000885248.1",
"protein_id": "ENSP00000555307.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 788,
"cds_start": 883,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885248.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.676C>T",
"hgvs_p": "p.Arg226*",
"transcript": "NM_001353083.2",
"protein_id": "NP_001340012.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 719,
"cds_start": 676,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353083.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225*",
"transcript": "ENST00000964651.1",
"protein_id": "ENSP00000634710.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 718,
"cds_start": 673,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964651.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "XM_011524831.2",
"protein_id": "XP_011523133.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 998,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524831.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "XM_017024662.2",
"protein_id": "XP_016880151.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 995,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024662.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "XM_011524832.3",
"protein_id": "XP_011523134.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 989,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524832.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "XM_017024663.3",
"protein_id": "XP_016880152.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 986,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024663.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Arg454*",
"transcript": "XM_011524833.2",
"protein_id": "XP_011523135.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 981,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524833.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "XM_005257385.2",
"protein_id": "XP_005257442.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 973,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257385.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Arg454*",
"transcript": "XM_047436106.1",
"protein_id": "XP_047292062.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 972,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436106.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437*",
"transcript": "XM_011524834.2",
"protein_id": "XP_011523136.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 964,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524834.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437*",
"transcript": "XM_047436107.1",
"protein_id": "XP_047292063.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 961,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436107.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Arg454*",
"transcript": "XM_047436108.1",
"protein_id": "XP_047292064.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 956,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436108.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437*",
"transcript": "XM_017024665.2",
"protein_id": "XP_016880154.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 955,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024665.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "XM_047436109.1",
"protein_id": "XP_047292065.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 955,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436109.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437*",
"transcript": "XM_047436110.1",
"protein_id": "XP_047292066.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 952,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436110.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "XM_011524836.2",
"protein_id": "XP_011523138.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 950,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524836.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Arg454*",
"transcript": "XM_017024667.2",
"protein_id": "XP_016880156.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 947,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024667.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "XM_047436111.1",
"protein_id": "XP_047292067.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 947,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436111.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Arg420*",
"transcript": "XM_047436112.1",
"protein_id": "XP_047292068.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 947,
"cds_start": 1258,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436112.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437*",
"transcript": "XM_047436113.1",
"protein_id": "XP_047292069.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 939,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436113.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437*",
"transcript": "XM_047436114.1",
"protein_id": "XP_047292070.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 930,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436114.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "XM_047436115.1",
"protein_id": "XP_047292071.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 930,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436115.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "XM_047436116.1",
"protein_id": "XP_047292072.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 921,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436116.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Arg420*",
"transcript": "XM_017024669.3",
"protein_id": "XP_016880158.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 913,
"cds_start": 1258,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024669.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Arg454*",
"transcript": "XM_047436117.1",
"protein_id": "XP_047292073.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 908,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436117.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "XM_047436118.1",
"protein_id": "XP_047292074.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 907,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436118.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Arg454*",
"transcript": "XM_047436119.1",
"protein_id": "XP_047292075.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 904,
"cds_start": 1360,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436119.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437*",
"transcript": "XM_047436120.1",
"protein_id": "XP_047292076.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 896,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436120.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437*",
"transcript": "XM_017024670.3",
"protein_id": "XP_016880159.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 891,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024670.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437*",
"transcript": "XM_047436121.1",
"protein_id": "XP_047292077.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 891,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436121.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437*",
"transcript": "XM_047436122.1",
"protein_id": "XP_047292078.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 887,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436122.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*",
"transcript": "XM_047436123.1",
"protein_id": "XP_047292079.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 882,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436123.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Arg420*",
"transcript": "XM_047436124.1",
"protein_id": "XP_047292080.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 874,
"cds_start": 1258,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436124.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Arg420*",
"transcript": "XM_047436125.1",
"protein_id": "XP_047292081.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 870,
"cds_start": 1258,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436125.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437*",
"transcript": "XM_047436126.1",
"protein_id": "XP_047292082.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 848,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436126.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.676C>T",
"hgvs_p": "p.Arg226*",
"transcript": "XM_017024673.3",
"protein_id": "XP_016880162.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 753,
"cds_start": 676,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024673.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1315-1478C>T",
"hgvs_p": null,
"transcript": "ENST00000885258.1",
"protein_id": "ENSP00000555317.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 892,
"cds_start": null,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885258.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1213-1478C>T",
"hgvs_p": null,
"transcript": "ENST00000938629.1",
"protein_id": "ENSP00000608688.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 858,
"cds_start": null,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938629.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1315-1478C>T",
"hgvs_p": null,
"transcript": "ENST00000964647.1",
"protein_id": "ENSP00000634706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 849,
"cds_start": null,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964647.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1105-1478C>T",
"hgvs_p": null,
"transcript": "ENST00000885257.1",
"protein_id": "ENSP00000555316.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 822,
"cds_start": null,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885257.1"
},
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "n.1830C>T",
"hgvs_p": null,
"transcript": "NR_148346.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148346.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "n.1728C>T",
"hgvs_p": null,
"transcript": "NR_148347.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148347.2"
}
],
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"dbsnp": "rs386834001",
"frequency_reference_population": 0.000018587798,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000198379,
"gnomad_genomes_af": 0.00000657402,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.33000001311302185,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001353084.2",
"gene_symbol": "TRIM37",
"hgnc_id": 7523,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471*"
}
],
"clinvar_disease": "Mulibrey nanism syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Mulibrey nanism syndrome|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}