← 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: 1-77697904-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=77697904&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 77697904,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015017.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2537A>G",
"hgvs_p": "p.Lys846Arg",
"transcript": "NM_201624.3",
"protein_id": "NP_963918.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 911,
"cds_start": 2537,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370794.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201624.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2537A>G",
"hgvs_p": "p.Lys846Arg",
"transcript": "ENST00000370794.7",
"protein_id": "ENSP00000359830.3",
"transcript_support_level": 1,
"aa_start": 846,
"aa_end": null,
"aa_length": 911,
"cds_start": 2537,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_201624.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370794.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2630A>G",
"hgvs_p": "p.Lys877Arg",
"transcript": "ENST00000370793.5",
"protein_id": "ENSP00000359829.1",
"transcript_support_level": 1,
"aa_start": 877,
"aa_end": null,
"aa_length": 942,
"cds_start": 2630,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370793.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2630A>G",
"hgvs_p": "p.Lys877Arg",
"transcript": "NM_015017.5",
"protein_id": "NP_055832.3",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 942,
"cds_start": 2630,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015017.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2630A>G",
"hgvs_p": "p.Lys877Arg",
"transcript": "ENST00000357428.5",
"protein_id": "ENSP00000350009.1",
"transcript_support_level": 5,
"aa_start": 877,
"aa_end": null,
"aa_length": 942,
"cds_start": 2630,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357428.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2606A>G",
"hgvs_p": "p.Lys869Arg",
"transcript": "NM_001377430.1",
"protein_id": "NP_001364359.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 934,
"cds_start": 2606,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377430.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2534A>G",
"hgvs_p": "p.Lys845Arg",
"transcript": "ENST00000920219.1",
"protein_id": "ENSP00000590278.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 910,
"cds_start": 2534,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920219.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2537A>G",
"hgvs_p": "p.Lys846Arg",
"transcript": "ENST00000955732.1",
"protein_id": "ENSP00000625791.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 910,
"cds_start": 2537,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955732.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2537A>G",
"hgvs_p": "p.Lys846Arg",
"transcript": "ENST00000853335.1",
"protein_id": "ENSP00000523394.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 909,
"cds_start": 2537,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853335.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2513A>G",
"hgvs_p": "p.Lys838Arg",
"transcript": "NM_001377431.1",
"protein_id": "NP_001364360.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 903,
"cds_start": 2513,
"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": "NM_001377431.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2513A>G",
"hgvs_p": "p.Lys838Arg",
"transcript": "ENST00000853331.1",
"protein_id": "ENSP00000523390.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 903,
"cds_start": 2513,
"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": "ENST00000853331.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2513A>G",
"hgvs_p": "p.Lys838Arg",
"transcript": "ENST00000853332.1",
"protein_id": "ENSP00000523391.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 903,
"cds_start": 2513,
"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": "ENST00000853332.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2513A>G",
"hgvs_p": "p.Lys838Arg",
"transcript": "ENST00000920221.1",
"protein_id": "ENSP00000590280.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 903,
"cds_start": 2513,
"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": "ENST00000920221.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2513A>G",
"hgvs_p": "p.Lys838Arg",
"transcript": "ENST00000920223.1",
"protein_id": "ENSP00000590282.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 901,
"cds_start": 2513,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920223.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2498A>G",
"hgvs_p": "p.Lys833Arg",
"transcript": "ENST00000955725.1",
"protein_id": "ENSP00000625784.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 898,
"cds_start": 2498,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955725.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2495A>G",
"hgvs_p": "p.Lys832Arg",
"transcript": "ENST00000955726.1",
"protein_id": "ENSP00000625785.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 897,
"cds_start": 2495,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955726.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2384A>G",
"hgvs_p": "p.Lys795Arg",
"transcript": "ENST00000853330.1",
"protein_id": "ENSP00000523389.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 860,
"cds_start": 2384,
"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": "ENST00000853330.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2384A>G",
"hgvs_p": "p.Lys795Arg",
"transcript": "ENST00000955734.1",
"protein_id": "ENSP00000625793.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 860,
"cds_start": 2384,
"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": "ENST00000955734.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2360A>G",
"hgvs_p": "p.Lys787Arg",
"transcript": "ENST00000920222.1",
"protein_id": "ENSP00000590281.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 852,
"cds_start": 2360,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920222.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2360A>G",
"hgvs_p": "p.Lys787Arg",
"transcript": "ENST00000955730.1",
"protein_id": "ENSP00000625789.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 852,
"cds_start": 2360,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955730.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2527A>G",
"hgvs_p": "p.Arg843Gly",
"transcript": "NM_001377432.1",
"protein_id": "NP_001364361.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 851,
"cds_start": 2527,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377432.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2348A>G",
"hgvs_p": "p.Lys783Arg",
"transcript": "ENST00000920220.1",
"protein_id": "ENSP00000590279.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 848,
"cds_start": 2348,
"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": "ENST00000920220.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2333A>G",
"hgvs_p": "p.Lys778Arg",
"transcript": "NM_001377433.1",
"protein_id": "NP_001364362.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 843,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377433.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2285A>G",
"hgvs_p": "p.Lys762Arg",
"transcript": "ENST00000955731.1",
"protein_id": "ENSP00000625790.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 827,
"cds_start": 2285,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955731.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2434A>G",
"hgvs_p": "p.Arg812Gly",
"transcript": "NM_001377434.1",
"protein_id": "NP_001364363.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 820,
"cds_start": 2434,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377434.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2240A>G",
"hgvs_p": "p.Lys747Arg",
"transcript": "NM_001377435.1",
"protein_id": "NP_001364364.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 812,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377435.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2410A>G",
"hgvs_p": "p.Arg804Gly",
"transcript": "NM_001377436.1",
"protein_id": "NP_001364365.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 812,
"cds_start": 2410,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377436.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2240A>G",
"hgvs_p": "p.Lys747Arg",
"transcript": "ENST00000853333.1",
"protein_id": "ENSP00000523392.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 812,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853333.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2240A>G",
"hgvs_p": "p.Lys747Arg",
"transcript": "ENST00000955733.1",
"protein_id": "ENSP00000625792.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 812,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955733.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2240A>G",
"hgvs_p": "p.Lys747Arg",
"transcript": "ENST00000955728.1",
"protein_id": "ENSP00000625787.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 810,
"cds_start": 2240,
"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": "ENST00000955728.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2216A>G",
"hgvs_p": "p.Lys739Arg",
"transcript": "NM_001377437.1",
"protein_id": "NP_001364366.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 804,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377437.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2216A>G",
"hgvs_p": "p.Lys739Arg",
"transcript": "ENST00000853334.1",
"protein_id": "ENSP00000523393.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 804,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853334.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2216A>G",
"hgvs_p": "p.Lys739Arg",
"transcript": "ENST00000955727.1",
"protein_id": "ENSP00000625786.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 804,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955727.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2093A>G",
"hgvs_p": "p.Lys698Arg",
"transcript": "NM_001377438.1",
"protein_id": "NP_001364367.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 763,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377438.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2093A>G",
"hgvs_p": "p.Lys698Arg",
"transcript": "NM_001377439.1",
"protein_id": "NP_001364368.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 763,
"cds_start": 2093,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377439.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.1520A>G",
"hgvs_p": "p.Lys507Arg",
"transcript": "ENST00000955729.1",
"protein_id": "ENSP00000625788.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 572,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955729.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.1339A>G",
"hgvs_p": "p.Arg447Gly",
"transcript": "ENST00000481579.5",
"protein_id": "ENSP00000432392.1",
"transcript_support_level": 2,
"aa_start": 447,
"aa_end": null,
"aa_length": 455,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481579.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2503A>G",
"hgvs_p": "p.Arg835Gly",
"transcript": "XM_047449731.1",
"protein_id": "XP_047305687.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 843,
"cds_start": 2503,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449731.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "c.2309A>G",
"hgvs_p": "p.Lys770Arg",
"transcript": "XM_047449735.1",
"protein_id": "XP_047305691.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 835,
"cds_start": 2309,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449735.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"hgvs_c": "n.311A>G",
"hgvs_p": null,
"transcript": "ENST00000533928.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "retained_intron",
"feature": "ENST00000533928.1"
}
],
"gene_symbol": "USP33",
"gene_hgnc_id": 20059,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.48922988772392273,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.159,
"revel_prediction": "Benign",
"alphamissense_score": 0.0777,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.583,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015017.5",
"gene_symbol": "USP33",
"hgnc_id": 20059,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2630A>G",
"hgvs_p": "p.Lys877Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}