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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: 5-140882092-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=140882092&ref=A&alt=T&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "5",
"pos": 140882092,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000504120.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA1",
"gene_hgnc_id": 8663,
"hgvs_c": "c.2394+93408A>T",
"hgvs_p": null,
"transcript": "NM_018900.4",
"protein_id": "NP_061723.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": -4,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5414,
"mane_select": "ENST00000504120.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA3",
"gene_hgnc_id": 8669,
"hgvs_c": "c.2394+78501A>T",
"hgvs_p": null,
"transcript": "NM_018906.3",
"protein_id": "NP_061729.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": -4,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5404,
"mane_select": "ENST00000522353.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA6",
"gene_hgnc_id": 8672,
"hgvs_c": "c.2394+51607A>T",
"hgvs_p": null,
"transcript": "NM_018909.4",
"protein_id": "NP_061732.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": -4,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": "ENST00000529310.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA8",
"gene_hgnc_id": 8674,
"hgvs_c": "c.2394+38377A>T",
"hgvs_p": null,
"transcript": "NM_018911.3",
"protein_id": "NP_061734.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": -4,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5398,
"mane_select": "ENST00000531613.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA9",
"gene_hgnc_id": 8675,
"hgvs_c": "c.2394+31203A>T",
"hgvs_p": null,
"transcript": "NM_031857.2",
"protein_id": "NP_114063.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": -4,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5377,
"mane_select": "ENST00000532602.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA1",
"gene_hgnc_id": 8663,
"hgvs_c": "c.2394+93408A>T",
"hgvs_p": null,
"transcript": "ENST00000504120.4",
"protein_id": "ENSP00000420840.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": -4,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5414,
"mane_select": "NM_018900.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA3",
"gene_hgnc_id": 8669,
"hgvs_c": "c.2394+78501A>T",
"hgvs_p": null,
"transcript": "ENST00000522353.3",
"protein_id": "ENSP00000429808.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": -4,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5404,
"mane_select": "NM_018906.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA6",
"gene_hgnc_id": 8672,
"hgvs_c": "c.2394+51607A>T",
"hgvs_p": null,
"transcript": "ENST00000529310.6",
"protein_id": "ENSP00000433378.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": -4,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": "NM_018909.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA8",
"gene_hgnc_id": 8674,
"hgvs_c": "c.2394+38377A>T",
"hgvs_p": null,
"transcript": "ENST00000531613.2",
"protein_id": "ENSP00000434655.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": -4,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5398,
"mane_select": "NM_018911.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA9",
"gene_hgnc_id": 8675,
"hgvs_c": "c.2394+31203A>T",
"hgvs_p": null,
"transcript": "ENST00000532602.2",
"protein_id": "ENSP00000436042.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": -4,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5377,
"mane_select": "NM_031857.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA11",
"gene_hgnc_id": 8665,
"hgvs_c": "c.2391+10598A>T",
"hgvs_p": null,
"transcript": "NM_018902.5",
"protein_id": "NP_061725.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 949,
"cds_start": -4,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5407,
"mane_select": "ENST00000398640.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA11",
"gene_hgnc_id": 8665,
"hgvs_c": "c.2391+10598A>T",
"hgvs_p": null,
"transcript": "ENST00000398640.7",
"protein_id": "ENSP00000381636.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 949,
"cds_start": -4,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5407,
"mane_select": "NM_018902.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA10",
"gene_hgnc_id": 8664,
"hgvs_c": "c.2388+23656A>T",
"hgvs_p": null,
"transcript": "NM_018901.4",
"protein_id": "NP_061724.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": -4,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5409,
"mane_select": "ENST00000307360.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA2",
"gene_hgnc_id": 8668,
"hgvs_c": "c.2388+84740A>T",
"hgvs_p": null,
"transcript": "NM_018905.3",
"protein_id": "NP_061728.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": -4,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5370,
"mane_select": "ENST00000526136.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA10",
"gene_hgnc_id": 8664,
"hgvs_c": "c.2388+23656A>T",
"hgvs_p": null,
"transcript": "ENST00000307360.6",
"protein_id": "ENSP00000304234.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": -4,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5409,
"mane_select": "NM_018901.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA2",
"gene_hgnc_id": 8668,
"hgvs_c": "c.2388+84740A>T",
"hgvs_p": null,
"transcript": "ENST00000526136.2",
"protein_id": "ENSP00000431748.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": -4,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5370,
"mane_select": "NM_018905.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA4",
"gene_hgnc_id": 8670,
"hgvs_c": "c.2385+72520A>T",
"hgvs_p": null,
"transcript": "NM_018907.4",
"protein_id": "NP_061730.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 947,
"cds_start": -4,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5374,
"mane_select": "ENST00000530339.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA4",
"gene_hgnc_id": 8670,
"hgvs_c": "c.2385+72520A>T",
"hgvs_p": null,
"transcript": "ENST00000530339.2",
"protein_id": "ENSP00000435300.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 947,
"cds_start": -4,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5374,
"mane_select": "NM_018907.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA12",
"gene_hgnc_id": 8666,
"hgvs_c": "c.2367+4253A>T",
"hgvs_p": null,
"transcript": "NM_018903.4",
"protein_id": "NP_061726.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 941,
"cds_start": -4,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5401,
"mane_select": "ENST00000398631.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA12",
"gene_hgnc_id": 8666,
"hgvs_c": "c.2367+4253A>T",
"hgvs_p": null,
"transcript": "ENST00000398631.3",
"protein_id": "ENSP00000381628.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 941,
"cds_start": -4,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5401,
"mane_select": "NM_018903.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA7",
"gene_hgnc_id": 8673,
"hgvs_c": "c.2355+45354A>T",
"hgvs_p": null,
"transcript": "NM_018910.3",
"protein_id": "NP_061733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 937,
"cds_start": -4,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5339,
"mane_select": "ENST00000525929.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA7",
"gene_hgnc_id": 8673,
"hgvs_c": "c.2355+45354A>T",
"hgvs_p": null,
"transcript": "ENST00000525929.2",
"protein_id": "ENSP00000436426.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 937,
"cds_start": -4,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5339,
"mane_select": "NM_018910.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
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"inheritance_mode": "",
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},
{
"score": -4,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "ENST00000307360.6",
"gene_symbol": "PCDHA10",
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],
"inheritance_mode": "",
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},
{
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],
"verdict": "Likely_benign",
"transcript": "ENST00000526136.2",
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],
"inheritance_mode": "",
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},
{
"score": -4,
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],
"verdict": "Likely_benign",
"transcript": "ENST00000530339.2",
"gene_symbol": "PCDHA4",
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],
"inheritance_mode": "",
"hgvs_c": "c.2385+72520A>T",
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},
{
"score": -4,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "ENST00000398631.3",
"gene_symbol": "PCDHA12",
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],
"inheritance_mode": "",
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},
{
"score": -4,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "ENST00000525929.2",
"gene_symbol": "PCDHA7",
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],
"inheritance_mode": "",
"hgvs_c": "c.2355+45354A>T",
"hgvs_p": null
},
{
"score": -4,
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"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000529859.2",
"gene_symbol": "PCDHA5",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2352+57965A>T",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000625195.1",
"gene_symbol": "ENSG00000278901",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.551T>A",
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},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "",
"gene_symbol": "PCDHA@",
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"effects": [
"intragenic_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.140882092A>T",
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},
{
"score": -4,
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"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000289272.3",
"gene_symbol": "PCDHA13",
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"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-177A>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}