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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: 5-10973694-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=10973694&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 10973694,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001332.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.3437C>T",
"hgvs_p": "p.Pro1146Leu",
"transcript": "NM_001332.4",
"protein_id": "NP_001323.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3437,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304623.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001332.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.3437C>T",
"hgvs_p": "p.Pro1146Leu",
"transcript": "ENST00000304623.13",
"protein_id": "ENSP00000307134.8",
"transcript_support_level": 1,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3437,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001332.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304623.13"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.3164C>T",
"hgvs_p": "p.Pro1055Leu",
"transcript": "ENST00000511377.5",
"protein_id": "ENSP00000426510.1",
"transcript_support_level": 1,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1134,
"cds_start": 3164,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "n.*139C>T",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000513588.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "n.*139C>T",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000513588.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.3380C>T",
"hgvs_p": "p.Pro1127Leu",
"transcript": "ENST00000954646.1",
"protein_id": "ENSP00000624705.1",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1206,
"cds_start": 3380,
"cds_end": null,
"cds_length": 3621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954646.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.3305C>T",
"hgvs_p": "p.Pro1102Leu",
"transcript": "ENST00000923862.1",
"protein_id": "ENSP00000593921.1",
"transcript_support_level": null,
"aa_start": 1102,
"aa_end": null,
"aa_length": 1181,
"cds_start": 3305,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923862.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.3263C>T",
"hgvs_p": "p.Pro1088Leu",
"transcript": "ENST00000954647.1",
"protein_id": "ENSP00000624706.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1167,
"cds_start": 3263,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954647.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.3164C>T",
"hgvs_p": "p.Pro1055Leu",
"transcript": "NM_001288715.1",
"protein_id": "NP_001275644.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1134,
"cds_start": 3164,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288715.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.2582C>T",
"hgvs_p": "p.Pro861Leu",
"transcript": "ENST00000706272.1",
"protein_id": "ENSP00000516316.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 940,
"cds_start": 2582,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706272.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.2501C>T",
"hgvs_p": "p.Pro834Leu",
"transcript": "NM_001364128.2",
"protein_id": "NP_001351057.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 913,
"cds_start": 2501,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364128.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.2501C>T",
"hgvs_p": "p.Pro834Leu",
"transcript": "ENST00000706271.1",
"protein_id": "ENSP00000516315.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 913,
"cds_start": 2501,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706271.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.2426C>T",
"hgvs_p": "p.Pro809Leu",
"transcript": "NM_001288716.1",
"protein_id": "NP_001275645.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 888,
"cds_start": 2426,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288716.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.2426C>T",
"hgvs_p": "p.Pro809Leu",
"transcript": "ENST00000503622.5",
"protein_id": "ENSP00000426887.1",
"transcript_support_level": 2,
"aa_start": 809,
"aa_end": null,
"aa_length": 888,
"cds_start": 2426,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503622.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.2138C>T",
"hgvs_p": "p.Pro713Leu",
"transcript": "NM_001288717.2",
"protein_id": "NP_001275646.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 792,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288717.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.3512C>T",
"hgvs_p": "p.Pro1171Leu",
"transcript": "XM_005248251.4",
"protein_id": "XP_005248308.1",
"transcript_support_level": null,
"aa_start": 1171,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3512,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248251.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.3239C>T",
"hgvs_p": "p.Pro1080Leu",
"transcript": "XM_005248253.2",
"protein_id": "XP_005248310.1",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3239,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248253.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.3239C>T",
"hgvs_p": "p.Pro1080Leu",
"transcript": "XM_011513967.3",
"protein_id": "XP_011512269.1",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3239,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513967.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.2774C>T",
"hgvs_p": "p.Pro925Leu",
"transcript": "XM_017009072.2",
"protein_id": "XP_016864561.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2774,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009072.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.2699C>T",
"hgvs_p": "p.Pro900Leu",
"transcript": "XM_017009074.2",
"protein_id": "XP_016864563.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 979,
"cds_start": 2699,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009074.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "c.1841C>T",
"hgvs_p": "p.Pro614Leu",
"transcript": "XM_047416777.1",
"protein_id": "XP_047272733.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 693,
"cds_start": 1841,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416777.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTNND2",
"gene_hgnc_id": 2516,
"hgvs_c": "n.2522C>T",
"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,
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"biotype": "pseudogene",
"feature": "ENST00000495388.6"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
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],
"exon_rank": 21,
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"exon_count": 21,
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"gene_symbol": "CTNND2",
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"hgvs_c": "n.*2176C>T",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 4,
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"gene_symbol": "CTNND2",
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"hgvs_c": "n.308C>T",
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"transcript": "ENST00000506324.1",
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"biotype": "pseudogene",
"feature": "ENST00000506324.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
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"exon_count": 22,
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"gene_symbol": "CTNND2",
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"hgvs_c": "n.3471C>T",
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"transcript": "NR_109988.2",
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"biotype": "pseudogene",
"feature": "NR_109988.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
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"exon_count": 21,
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"gene_symbol": "CTNND2",
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"hgvs_c": "n.*2176C>T",
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"transcript": "ENST00000504499.5",
"protein_id": "ENSP00000421000.1",
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"aa_end": null,
"aa_length": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000504499.5"
},
{
"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": 2,
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"gene_symbol": "LOC105374654",
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"hgvs_c": "n.535+3587G>A",
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"transcript": "XR_925791.3",
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"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": "pseudogene",
"feature": "XR_925791.3"
}
],
"gene_symbol": "CTNND2",
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"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": 0.20297011733055115,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.261,
"revel_prediction": "Benign",
"alphamissense_score": 0.0686,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.34,
"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": 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_001332.4",
"gene_symbol": "CTNND2",
"hgnc_id": 2516,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3437C>T",
"hgvs_p": "p.Pro1146Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_925791.3",
"gene_symbol": "LOC105374654",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.535+3587G>A",
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}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}