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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: 5-10981586-A-AACACACACACACAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=10981586&ref=A&alt=AACACACACACACAC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 10981586,
"ref": "A",
"alt": "AACACACACACACAC",
"effect": "intron_variant",
"transcript": "NM_001332.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.3417+173_3417+186dupGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "NM_001332.4",
"protein_id": "NP_001323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1225,
"cds_start": null,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5888,
"mane_select": "ENST00000304623.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001332.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.3417+186_3417+187insGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000304623.13",
"protein_id": "ENSP00000307134.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1225,
"cds_start": null,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5888,
"mane_select": "NM_001332.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304623.13"
},
{
"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": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.3144+186_3144+187insGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000511377.5",
"protein_id": "ENSP00000426510.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1134,
"cds_start": null,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511377.5"
},
{
"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": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "n.*119+186_*119+187insGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000513588.5",
"protein_id": "ENSP00000421093.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3818,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000513588.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.3360+186_3360+187insGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000954646.1",
"protein_id": "ENSP00000624705.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1206,
"cds_start": null,
"cds_end": null,
"cds_length": 3621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954646.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.3285+186_3285+187insGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000923862.1",
"protein_id": "ENSP00000593921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1181,
"cds_start": null,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923862.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.3243+186_3243+187insGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000954647.1",
"protein_id": "ENSP00000624706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1167,
"cds_start": null,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954647.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.3144+173_3144+186dupGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "NM_001288715.1",
"protein_id": "NP_001275644.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1134,
"cds_start": null,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5289,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288715.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.2562+186_2562+187insGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000706272.1",
"protein_id": "ENSP00000516316.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 940,
"cds_start": null,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706272.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.2481+173_2481+186dupGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "NM_001364128.2",
"protein_id": "NP_001351057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 913,
"cds_start": null,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4790,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364128.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.2481+186_2481+187insGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000706271.1",
"protein_id": "ENSP00000516315.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 913,
"cds_start": null,
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"cds_length": 2742,
"cdna_start": null,
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"cdna_length": 4790,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000706271.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.2406+173_2406+186dupGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "NM_001288716.1",
"protein_id": "NP_001275645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 888,
"cds_start": null,
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"cds_length": 2667,
"cdna_start": null,
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"cdna_length": 4551,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288716.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.2406+186_2406+187insGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000503622.5",
"protein_id": "ENSP00000426887.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000503622.5"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 20,
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"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.2118+173_2118+186dupGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "NM_001288717.2",
"protein_id": "NP_001275646.1",
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"aa_start": null,
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"aa_length": 792,
"cds_start": null,
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"cds_length": 2379,
"cdna_start": null,
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"cdna_length": 5323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288717.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.3492+173_3492+186dupGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "XM_005248251.4",
"protein_id": "XP_005248308.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_005248251.4"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.3219+173_3219+186dupGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "XM_005248253.2",
"protein_id": "XP_005248310.1",
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"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_005248253.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.3219+173_3219+186dupGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "XM_011513967.3",
"protein_id": "XP_011512269.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1159,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011513967.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.2754+173_2754+186dupGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "XM_017009072.2",
"protein_id": "XP_016864561.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017009072.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.2679+173_2679+186dupGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "XM_017009074.2",
"protein_id": "XP_016864563.1",
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"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017009074.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
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"hgvs_c": "c.1821+173_1821+186dupGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "XM_047416777.1",
"protein_id": "XP_047272733.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416777.1"
},
{
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "n.2502+186_2502+187insGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000495388.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 3684,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000495388.6"
},
{
"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": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "n.*2156+186_*2156+187insGTGTGTGTGTGTGT",
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"transcript": "ENST00000504499.5",
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{
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{
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{
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],
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"hom_count_reference_population": 0,
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"gnomad_genomes_af": 0.00000664991,
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"gnomad_genomes_ac": 1,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -1.529,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": null,
"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": "",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001332.4",
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"effects": [
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"inheritance_mode": "AD",
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},
{
"score": 0,
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"verdict": "Uncertain_significance",
"transcript": "XR_925791.3",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.536-2589_536-2576dupCACACACACACACA",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}