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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: 11-119373255-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=119373255&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 119373255,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004205.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP2",
"gene_hgnc_id": 12618,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Arg76Trp",
"transcript": "NM_004205.5",
"protein_id": "NP_004196.4",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 605,
"cds_start": 226,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": "ENST00000260187.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP2",
"gene_hgnc_id": 12618,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Arg76Trp",
"transcript": "ENST00000260187.7",
"protein_id": "ENSP00000260187.2",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 605,
"cds_start": 226,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": "NM_004205.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP2",
"gene_hgnc_id": 12618,
"hgvs_c": "c.45+8218C>T",
"hgvs_p": null,
"transcript": "ENST00000455332.6",
"protein_id": "ENSP00000407842.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": -4,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP2",
"gene_hgnc_id": 12618,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Arg76Trp",
"transcript": "ENST00000531070.1",
"protein_id": "ENSP00000433977.1",
"transcript_support_level": 4,
"aa_start": 76,
"aa_end": null,
"aa_length": 166,
"cds_start": 226,
"cds_end": null,
"cds_length": 503,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP2",
"gene_hgnc_id": 12618,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Arg76Trp",
"transcript": "ENST00000527843.1",
"protein_id": "ENSP00000431857.1",
"transcript_support_level": 2,
"aa_start": 76,
"aa_end": null,
"aa_length": 136,
"cds_start": 226,
"cds_end": null,
"cds_length": 413,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP2",
"gene_hgnc_id": 12618,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Arg76Trp",
"transcript": "XM_005271721.6",
"protein_id": "XP_005271778.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 605,
"cds_start": 226,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 3540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP2",
"gene_hgnc_id": 12618,
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Arg76Trp",
"transcript": "XM_005271722.3",
"protein_id": "XP_005271779.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 605,
"cds_start": 226,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 3111,
"cdna_end": null,
"cdna_length": 6323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP2-AS1",
"gene_hgnc_id": 48673,
"hgvs_c": "n.550G>A",
"hgvs_p": null,
"transcript": "ENST00000530918.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP2",
"gene_hgnc_id": 12618,
"hgvs_c": "c.45+8218C>T",
"hgvs_p": null,
"transcript": "NM_001243759.2",
"protein_id": "NP_001230688.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": -4,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP2-AS1",
"gene_hgnc_id": 48673,
"hgvs_c": "n.90+5728G>A",
"hgvs_p": null,
"transcript": "ENST00000656105.2",
"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": 993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP2-AS1",
"gene_hgnc_id": 48673,
"hgvs_c": "n.172-8207G>A",
"hgvs_p": null,
"transcript": "ENST00000656292.3",
"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": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP2-AS1",
"gene_hgnc_id": 48673,
"hgvs_c": "n.53+8725G>A",
"hgvs_p": null,
"transcript": "ENST00000659432.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 3798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP2-AS1",
"gene_hgnc_id": 48673,
"hgvs_c": "n.172-8207G>A",
"hgvs_p": null,
"transcript": "ENST00000660630.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4363,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP2-AS1",
"gene_hgnc_id": 48673,
"hgvs_c": "n.172+8725G>A",
"hgvs_p": null,
"transcript": "ENST00000668377.1",
"protein_id": null,
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "USP2-AS1",
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"hgvs_c": "n.90+5728G>A",
"hgvs_p": null,
"transcript": "ENST00000668500.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP2-AS1",
"gene_hgnc_id": 48673,
"hgvs_c": "n.251+16538G>A",
"hgvs_p": null,
"transcript": "ENST00000706409.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "USP2-AS1",
"gene_hgnc_id": 48673,
"hgvs_c": "n.38+8920G>A",
"hgvs_p": null,
"transcript": "ENST00000706410.1",
"protein_id": null,
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"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP2-AS1",
"gene_hgnc_id": 48673,
"hgvs_c": "n.206+8725G>A",
"hgvs_p": null,
"transcript": "ENST00000706411.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP2-AS1",
"gene_hgnc_id": 48673,
"hgvs_c": "n.42-8207G>A",
"hgvs_p": null,
"transcript": "ENST00000706417.2",
"protein_id": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP2-AS1",
"gene_hgnc_id": 48673,
"hgvs_c": "n.120+8725G>A",
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"transcript": "ENST00000706428.2",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP2-AS1",
"gene_hgnc_id": 48673,
"hgvs_c": "n.40+8920G>A",
"hgvs_p": null,
"transcript": "ENST00000706444.1",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP2-AS1",
"gene_hgnc_id": 48673,
"hgvs_c": "n.182-8207G>A",
"hgvs_p": null,
"transcript": "ENST00000706473.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "USP2-AS1",
"gene_hgnc_id": 48673,
"hgvs_c": "n.120+5728G>A",
"hgvs_p": null,
"transcript": "ENST00000706474.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1215,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "USP2-AS1",
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"transcript": "ENST00000706475.1",
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"cds_start": -4,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
"intron_rank": 1,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "USP2-AS1",
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"hgvs_c": "n.144+8725G>A",
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"transcript": "ENST00000783133.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
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"gene_symbol": "USP2-AS1",
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"hgvs_c": "n.90+5728G>A",
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"transcript": "ENST00000783149.1",
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"cdna_length": 901,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "USP2-AS1",
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"transcript": "ENST00000783150.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "USP2-AS1",
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"hgvs_c": "n.57+4638G>A",
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"transcript": "ENST00000783164.1",
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"cds_start": -4,
"cds_end": null,
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"cdna_end": null,
"cdna_length": 800,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "USP2",
"gene_hgnc_id": 12618,
"dbsnp": "rs145987190",
"frequency_reference_population": 0.00005081181,
"hom_count_reference_population": 0,
"allele_count_reference_population": 82,
"gnomad_exomes_af": 0.000051313,
"gnomad_genomes_af": 0.0000459982,
"gnomad_exomes_ac": 75,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09137424826622009,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.076,
"revel_prediction": "Benign",
"alphamissense_score": 0.2118,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.326,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004205.5",
"gene_symbol": "USP2",
"hgnc_id": 12618,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.226C>T",
"hgvs_p": "p.Arg76Trp"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000530918.2",
"gene_symbol": "USP2-AS1",
"hgnc_id": 48673,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.550G>A",
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}
],
"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
}