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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: 9-6256067-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=6256067&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 6256067,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000682010.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL33",
"gene_hgnc_id": 16028,
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Val238Met",
"transcript": "NM_033439.4",
"protein_id": "NP_254274.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 270,
"cds_start": 712,
"cds_end": null,
"cds_length": 813,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 2685,
"mane_select": "ENST00000682010.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL33",
"gene_hgnc_id": 16028,
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Val238Met",
"transcript": "ENST00000682010.1",
"protein_id": "ENSP00000507310.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 270,
"cds_start": 712,
"cds_end": null,
"cds_length": 813,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 2685,
"mane_select": "NM_033439.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL33",
"gene_hgnc_id": 16028,
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Val238Met",
"transcript": "ENST00000381434.7",
"protein_id": "ENSP00000370842.3",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 270,
"cds_start": 712,
"cds_end": null,
"cds_length": 813,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL33",
"gene_hgnc_id": 16028,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Val196Met",
"transcript": "ENST00000611532.4",
"protein_id": "ENSP00000478858.1",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 228,
"cds_start": 586,
"cds_end": null,
"cds_length": 687,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL33",
"gene_hgnc_id": 16028,
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Val238Met",
"transcript": "NM_001314044.2",
"protein_id": "NP_001300973.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 270,
"cds_start": 712,
"cds_end": null,
"cds_length": 813,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 2693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL33",
"gene_hgnc_id": 16028,
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Val238Met",
"transcript": "NM_001314045.2",
"protein_id": "NP_001300974.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 270,
"cds_start": 712,
"cds_end": null,
"cds_length": 813,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 2701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL33",
"gene_hgnc_id": 16028,
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Val232Met",
"transcript": "NM_001314046.2",
"protein_id": "NP_001300975.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 264,
"cds_start": 694,
"cds_end": null,
"cds_length": 795,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 2667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL33",
"gene_hgnc_id": 16028,
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Val232Met",
"transcript": "NM_001314047.2",
"protein_id": "NP_001300976.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 264,
"cds_start": 694,
"cds_end": null,
"cds_length": 795,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 2675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL33",
"gene_hgnc_id": 16028,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Val197Met",
"transcript": "NM_001353802.2",
"protein_id": "NP_001340731.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 229,
"cds_start": 589,
"cds_end": null,
"cds_length": 690,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL33",
"gene_hgnc_id": 16028,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Val196Met",
"transcript": "NM_001199640.2",
"protein_id": "NP_001186569.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 228,
"cds_start": 586,
"cds_end": null,
"cds_length": 687,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL33",
"gene_hgnc_id": 16028,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Val196Met",
"transcript": "NM_001314048.2",
"protein_id": "NP_001300977.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 228,
"cds_start": 586,
"cds_end": null,
"cds_length": 687,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL33",
"gene_hgnc_id": 16028,
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Val196Met",
"transcript": "ENST00000456383.3",
"protein_id": "ENSP00000414238.2",
"transcript_support_level": 5,
"aa_start": 196,
"aa_end": null,
"aa_length": 228,
"cds_start": 586,
"cds_end": null,
"cds_length": 687,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL33",
"gene_hgnc_id": 16028,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Val112Met",
"transcript": "NM_001199641.2",
"protein_id": "NP_001186570.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 144,
"cds_start": 334,
"cds_end": null,
"cds_length": 435,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "IL33",
"gene_hgnc_id": 16028,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Val112Met",
"transcript": "ENST00000417746.6",
"protein_id": "ENSP00000394039.2",
"transcript_support_level": 2,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "IL33",
"gene_hgnc_id": 16028,
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Val238Met",
"transcript": "XM_047424060.1",
"protein_id": "XP_047280016.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 270,
"cds_start": 712,
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"cdna_start": 896,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "IL33",
"gene_hgnc_id": 16028,
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Val238Met",
"transcript": "XM_047424061.1",
"protein_id": "XP_047280017.1",
"transcript_support_level": null,
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},
{
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],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "IL33",
"gene_hgnc_id": 16028,
"hgvs_c": "c.712G>A",
"hgvs_p": "p.Val238Met",
"transcript": "XM_047424062.1",
"protein_id": "XP_047280018.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 270,
"cds_start": 712,
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"cdna_start": 978,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL33",
"gene_hgnc_id": 16028,
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Val232Met",
"transcript": "XM_017015285.2",
"protein_id": "XP_016870774.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 264,
"cds_start": 694,
"cds_end": null,
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"cdna_start": 960,
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"cdna_length": 2876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL33",
"gene_hgnc_id": 16028,
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Val232Met",
"transcript": "XM_047424063.1",
"protein_id": "XP_047280019.1",
"transcript_support_level": null,
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"aa_end": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL33",
"gene_hgnc_id": 16028,
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Val232Met",
"transcript": "XM_047424064.1",
"protein_id": "XP_047280020.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000294323",
"gene_hgnc_id": null,
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"hgvs_p": null,
"transcript": "ENST00000722750.1",
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000294323",
"gene_hgnc_id": null,
"hgvs_c": "n.188-12244C>T",
"hgvs_p": null,
"transcript": "ENST00000722751.1",
"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,
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"cdna_length": 537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000294323",
"gene_hgnc_id": null,
"hgvs_c": "n.308-12244C>T",
"hgvs_p": null,
"transcript": "ENST00000722752.1",
"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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},
{
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},
{
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],
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},
{
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],
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}
],
"gene_symbol": "IL33",
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"dbsnp": "rs193920852",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08157631754875183,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.624,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"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,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000682010.1",
"gene_symbol": "IL33",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Val238Met"
},
{
"score": 0,
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000722750.1",
"gene_symbol": "ENSG00000294323",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.187-27772C>T",
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},
{
"score": 0,
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001746614.2",
"gene_symbol": "LOC107987046",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.153-27772C>T",
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}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}