← 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: 17-59028616-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=59028616&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 59028616,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000262294.12",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"transcript": "NM_015294.6",
"protein_id": "NP_056109.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 964,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 4489,
"mane_select": "ENST00000262294.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"transcript": "ENST00000262294.12",
"protein_id": "ENSP00000262294.7",
"transcript_support_level": 1,
"aa_start": 686,
"aa_end": null,
"aa_length": 964,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 4489,
"mane_select": "NM_015294.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"transcript": "ENST00000393066.7",
"protein_id": "ENSP00000376785.3",
"transcript_support_level": 1,
"aa_start": 686,
"aa_end": null,
"aa_length": 964,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 2516,
"cdna_end": null,
"cdna_length": 3622,
"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": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "n.*1928C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4310,
"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": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "n.*1928C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"transcript": "NM_001353084.2",
"protein_id": "NP_001340013.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 973,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 4516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"transcript": "NM_001005207.5",
"protein_id": "NP_001005207.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 964,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2005C>T",
"hgvs_p": "p.Arg669*",
"transcript": "NM_001353086.2",
"protein_id": "NP_001340015.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 947,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2424,
"cdna_end": null,
"cdna_length": 4438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"transcript": "NM_001353082.2",
"protein_id": "NP_001340011.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 939,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 4414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"transcript": "NM_001320987.3",
"protein_id": "NP_001307916.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 930,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 4387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"transcript": "ENST00000393065.6",
"protein_id": "ENSP00000376784.2",
"transcript_support_level": 2,
"aa_start": 652,
"aa_end": null,
"aa_length": 930,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2319,
"cdna_end": null,
"cdna_length": 3548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"transcript": "NM_001320988.3",
"protein_id": "NP_001307917.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 925,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 4372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"transcript": "NM_001320989.3",
"protein_id": "NP_001307918.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 925,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 3466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1594C>T",
"hgvs_p": "p.Arg532*",
"transcript": "NM_001353085.2",
"protein_id": "NP_001340014.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 810,
"cds_start": 1594,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2285,
"cdna_end": null,
"cdna_length": 4299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1690C>T",
"hgvs_p": "p.Arg564*",
"transcript": "NM_001320990.3",
"protein_id": "NP_001307919.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 803,
"cds_start": 1690,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2551,
"cdna_end": null,
"cdna_length": 4448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1321C>T",
"hgvs_p": "p.Arg441*",
"transcript": "NM_001353083.2",
"protein_id": "NP_001340012.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 719,
"cds_start": 1321,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 2492,
"cdna_end": null,
"cdna_length": 4506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"transcript": "XM_011524831.2",
"protein_id": "XP_011523133.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 998,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"transcript": "XM_017024662.2",
"protein_id": "XP_016880151.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 995,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 6236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"transcript": "XM_011524832.3",
"protein_id": "XP_011523134.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 989,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 6609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"transcript": "XM_017024663.3",
"protein_id": "XP_016880152.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 986,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 6209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2005C>T",
"hgvs_p": "p.Arg669*",
"transcript": "XM_011524833.2",
"protein_id": "XP_011523135.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 981,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 2424,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"transcript": "XM_005257385.2",
"protein_id": "XP_005257442.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 973,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 3610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2005C>T",
"hgvs_p": "p.Arg669*",
"transcript": "XM_047436106.1",
"protein_id": "XP_047292062.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 972,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2424,
"cdna_end": null,
"cdna_length": 4853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"transcript": "XM_011524834.2",
"protein_id": "XP_011523136.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 964,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 3329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"transcript": "XM_047436107.1",
"protein_id": "XP_047292063.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 961,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 6134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2005C>T",
"hgvs_p": "p.Arg669*",
"transcript": "XM_047436108.1",
"protein_id": "XP_047292064.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 956,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 2424,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"transcript": "XM_017024665.2",
"protein_id": "XP_016880154.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 955,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 4802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"transcript": "XM_047436109.1",
"protein_id": "XP_047292065.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 955,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 4771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"transcript": "XM_047436110.1",
"protein_id": "XP_047292066.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 952,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 6107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"transcript": "XM_011524836.2",
"protein_id": "XP_011523138.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 950,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 3965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2005C>T",
"hgvs_p": "p.Arg669*",
"transcript": "XM_017024667.2",
"protein_id": "XP_016880156.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 947,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2424,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"transcript": "XM_047436111.1",
"protein_id": "XP_047292067.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 947,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 6092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1903C>T",
"hgvs_p": "p.Arg635*",
"transcript": "XM_047436112.1",
"protein_id": "XP_047292068.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 947,
"cds_start": 1903,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2322,
"cdna_end": null,
"cdna_length": 3278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"transcript": "XM_047436113.1",
"protein_id": "XP_047292069.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 939,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 3508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"transcript": "XM_047436114.1",
"protein_id": "XP_047292070.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 930,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 3481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"transcript": "XM_047436115.1",
"protein_id": "XP_047292071.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 930,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 3481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"transcript": "XM_047436116.1",
"protein_id": "XP_047292072.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 921,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2766,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 3454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1903C>T",
"hgvs_p": "p.Arg635*",
"transcript": "XM_017024669.3",
"protein_id": "XP_016880158.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 913,
"cds_start": 1903,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2322,
"cdna_end": null,
"cdna_length": 4336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2005C>T",
"hgvs_p": "p.Arg669*",
"transcript": "XM_047436117.1",
"protein_id": "XP_047292073.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 908,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 2424,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"transcript": "XM_047436118.1",
"protein_id": "XP_047292074.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 907,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 3158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2005C>T",
"hgvs_p": "p.Arg669*",
"transcript": "XM_047436119.1",
"protein_id": "XP_047292075.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 904,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 2424,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"transcript": "XM_047436120.1",
"protein_id": "XP_047292076.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 896,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 4285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"transcript": "XM_017024670.3",
"protein_id": "XP_016880159.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 891,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 4270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"transcript": "XM_047436121.1",
"protein_id": "XP_047292077.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 891,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 3364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"transcript": "XM_047436122.1",
"protein_id": "XP_047292078.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 887,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 3352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*",
"transcript": "XM_047436123.1",
"protein_id": "XP_047292079.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 882,
"cds_start": 2056,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1903C>T",
"hgvs_p": "p.Arg635*",
"transcript": "XM_047436124.1",
"protein_id": "XP_047292080.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 874,
"cds_start": 1903,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 2322,
"cdna_end": null,
"cdna_length": 4219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1903C>T",
"hgvs_p": "p.Arg635*",
"transcript": "XM_047436125.1",
"protein_id": "XP_047292081.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 870,
"cds_start": 1903,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2322,
"cdna_end": null,
"cdna_length": 4207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1954C>T",
"hgvs_p": "p.Arg652*",
"transcript": "XM_047436126.1",
"protein_id": "XP_047292082.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 848,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 4141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "c.1321C>T",
"hgvs_p": "p.Arg441*",
"transcript": "XM_017024673.3",
"protein_id": "XP_016880162.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 753,
"cds_start": 1321,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 2392,
"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": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "n.2475C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4530,
"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": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"hgvs_c": "n.2373C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRIM37",
"gene_hgnc_id": 7523,
"dbsnp": "rs386834003",
"frequency_reference_population": 0.000002736229,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273623,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.561,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000262294.12",
"gene_symbol": "TRIM37",
"hgnc_id": 7523,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2056C>T",
"hgvs_p": "p.Arg686*"
}
],
"clinvar_disease": "Mulibrey nanism syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Mulibrey nanism syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}