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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: 5-140828523-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=140828523&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 140828523,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_018909.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDHA6",
"gene_hgnc_id": 8672,
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Glu144Glu",
"transcript": "NM_018909.4",
"protein_id": "NP_061732.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 950,
"cds_start": 432,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000529310.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018909.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDHA6",
"gene_hgnc_id": 8672,
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Glu144Glu",
"transcript": "ENST00000529310.6",
"protein_id": "ENSP00000433378.1",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 950,
"cds_start": 432,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018909.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529310.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDHA6",
"gene_hgnc_id": 8672,
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Glu144Glu",
"transcript": "ENST00000527624.1",
"protein_id": "ENSP00000434113.1",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 686,
"cds_start": 432,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527624.1"
},
{
"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+39839A>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": null,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000504120.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018900.4"
},
{
"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+24932A>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": null,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000522353.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018906.3"
},
{
"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+39839A>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": null,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018900.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504120.4"
},
{
"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+24932A>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": null,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018906.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522353.3"
},
{
"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+31171A>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": null,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000526136.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018905.3"
},
{
"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+31171A>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": null,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018905.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526136.2"
},
{
"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+18951A>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": null,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000530339.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018907.4"
},
{
"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+18951A>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": null,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018907.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530339.2"
},
{
"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+4396A>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": null,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000529859.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018908.3"
},
{
"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+4396A>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": null,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018908.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529859.2"
},
{
"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+18951A>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": null,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512229.6"
},
{
"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+4396A>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": null,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529619.5"
},
{
"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+40631A>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": null,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394633.7"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDHA6",
"gene_hgnc_id": 8672,
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Glu144Glu",
"transcript": "NM_031848.3",
"protein_id": "NP_114036.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 803,
"cds_start": 432,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031848.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDHA6",
"gene_hgnc_id": 8672,
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Glu144Glu",
"transcript": "ENST00000378126.4",
"protein_id": "ENSP00000367366.4",
"transcript_support_level": 6,
"aa_start": 144,
"aa_end": null,
"aa_length": 803,
"cds_start": 432,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378126.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDHA6",
"gene_hgnc_id": 8672,
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Glu144Glu",
"transcript": "NM_031849.3",
"protein_id": "NP_114037.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 686,
"cds_start": 432,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031849.3"
},
{
"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+40631A>G",
"hgvs_p": null,
"transcript": "NM_031411.3",
"protein_id": "NP_113599.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 686,
"cds_start": null,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031411.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000279726",
"gene_hgnc_id": null,
"hgvs_c": "n.27T>C",
"hgvs_p": null,
"transcript": "ENST00000655235.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000655235.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": null,
"strand": true,
"consequences": [
"intragenic_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": null,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDHA@",
"gene_hgnc_id": 8662,
"hgvs_c": "n.140828523A>G",
"hgvs_p": null,
"transcript": null,
"protein_id": null,
"transcript_support_level": null,
"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": null,
"feature": null
}
],
"gene_symbol": "PCDHA6",
"gene_hgnc_id": 8672,
"dbsnp": "rs61730778",
"frequency_reference_population": 0.00027444446,
"hom_count_reference_population": 1,
"allele_count_reference_population": 443,
"gnomad_exomes_af": 0.00017922,
"gnomad_genomes_af": 0.00118863,
"gnomad_exomes_ac": 262,
"gnomad_genomes_ac": 181,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.039,
"phylop100way_prediction": "Benign",
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_018909.4",
"gene_symbol": "PCDHA6",
"hgnc_id": 8672,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Glu144Glu"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_018900.4",
"gene_symbol": "PCDHA1",
"hgnc_id": 8663,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2394+39839A>G",
"hgvs_p": null
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_018906.3",
"gene_symbol": "PCDHA3",
"hgnc_id": 8669,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2394+24932A>G",
"hgvs_p": null
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_018905.3",
"gene_symbol": "PCDHA2",
"hgnc_id": 8668,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2388+31171A>G",
"hgvs_p": null
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_018907.4",
"gene_symbol": "PCDHA4",
"hgnc_id": 8670,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2385+18951A>G",
"hgvs_p": null
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_018908.3",
"gene_symbol": "PCDHA5",
"hgnc_id": 8671,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2352+4396A>G",
"hgvs_p": null
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000655235.1",
"gene_symbol": "ENSG00000279726",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.27T>C",
"hgvs_p": null
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "",
"gene_symbol": "PCDHA@",
"hgnc_id": 8662,
"effects": [
"intragenic_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.140828523A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}