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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: 5-140849501-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=140849501&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 140849501,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000532602.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDHA9",
"gene_hgnc_id": 8675,
"hgvs_c": "c.1006C>G",
"hgvs_p": "p.Leu336Val",
"transcript": "NM_031857.2",
"protein_id": "NP_114063.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 950,
"cds_start": 1006,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 5377,
"mane_select": "ENST00000532602.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDHA9",
"gene_hgnc_id": 8675,
"hgvs_c": "c.1006C>G",
"hgvs_p": "p.Leu336Val",
"transcript": "ENST00000532602.2",
"protein_id": "ENSP00000436042.2",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 950,
"cds_start": 1006,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 1120,
"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": "PCDHA1",
"gene_hgnc_id": 8663,
"hgvs_c": "c.2394+60817C>G",
"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+45910C>G",
"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+19016C>G",
"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+5786C>G",
"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": 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+60817C>G",
"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+45910C>G",
"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+19016C>G",
"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+5786C>G",
"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": 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+52149C>G",
"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": "PCDHA2",
"gene_hgnc_id": 8668,
"hgvs_c": "c.2388+52149C>G",
"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+39929C>G",
"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+39929C>G",
"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": "PCDHA7",
"gene_hgnc_id": 8673,
"hgvs_c": "c.2355+12763C>G",
"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+12763C>G",
"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,
"gene_symbol": "PCDHA5",
"gene_hgnc_id": 8671,
"hgvs_c": "c.2352+25374C>G",
"hgvs_p": null,
"transcript": "NM_018908.3",
"protein_id": "NP_061731.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 936,
"cds_start": -4,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5384,
"mane_select": "ENST00000529859.2",
"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": "PCDHA5",
"gene_hgnc_id": 8671,
"hgvs_c": "c.2352+25374C>G",
"hgvs_p": null,
"transcript": "ENST00000529859.2",
"protein_id": "ENSP00000436557.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 936,
"cds_start": -4,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5384,
"mane_select": "NM_018908.3",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA4",
"gene_hgnc_id": 8670,
"hgvs_c": "c.2385+39929C>G",
"hgvs_p": null,
"transcript": "ENST00000512229.6",
"protein_id": "ENSP00000423470.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 901,
"cds_start": -4,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": null,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHA5",
"gene_hgnc_id": 8671,
"hgvs_c": "c.2352+25374C>G",
"hgvs_p": null,
"transcript": "ENST00000529619.5",
"protein_id": "ENSP00000433416.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 890,
"cds_start": -4,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"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": "PCDHA1",
"gene_hgnc_id": 8663,
"hgvs_c": "c.1602+61609C>G",
"hgvs_p": null,
"transcript": "ENST00000394633.7",
"protein_id": "ENSP00000378129.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 686,
"cds_start": -4,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2204,
"mane_select": null,
"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.1602+19808C>G",
"hgvs_p": null,
"transcript": "ENST00000527624.1",
"protein_id": "ENSP00000434113.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 686,
"cds_start": -4,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDHA9",
"gene_hgnc_id": 8675,
"hgvs_c": "c.1006C>G",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.333,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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{
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],
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],
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},
{
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],
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},
{
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"transcript": "ENST00000529310.6",
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},
{
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"BP6",
"BA1"
],
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"transcript": "ENST00000531613.2",
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],
"inheritance_mode": "",
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},
{
"score": -13,
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"BP6",
"BA1"
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"verdict": "Benign",
"transcript": "ENST00000526136.2",
"gene_symbol": "PCDHA2",
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],
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"hgvs_c": "c.2388+52149C>G",
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},
{
"score": -13,
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"criteria": [
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"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000530339.2",
"gene_symbol": "PCDHA4",
"hgnc_id": 8670,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.2385+39929C>G",
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},
{
"score": -13,
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"criteria": [
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"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000525929.2",
"gene_symbol": "PCDHA7",
"hgnc_id": 8673,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.2355+12763C>G",
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},
{
"score": -13,
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"criteria": [
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"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000529859.2",
"gene_symbol": "PCDHA5",
"hgnc_id": 8671,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2352+25374C>G",
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},
{
"score": -13,
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"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000623320.1",
"gene_symbol": "ENSG00000278907",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
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"hgvs_c": "n.196G>C",
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},
{
"score": -13,
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"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "",
"gene_symbol": "PCDHA@",
"hgnc_id": 8662,
"effects": [
"intragenic_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.140849501C>G",
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}
],
"clinvar_disease": "PCDHA9-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "PCDHA9-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}