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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: 3-134559409-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=134559409&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 134559409,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000675561.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1933C>G",
"hgvs_p": "p.Gln645Glu",
"transcript": "NM_001353108.3",
"protein_id": "NP_001340037.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 703,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2104,
"cdna_end": null,
"cdna_length": 5779,
"mane_select": "ENST00000675561.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1933C>G",
"hgvs_p": "p.Gln645Glu",
"transcript": "ENST00000675561.1",
"protein_id": "ENSP00000502085.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 703,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2104,
"cdna_end": null,
"cdna_length": 5779,
"mane_select": "NM_001353108.3",
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1468-1968C>G",
"hgvs_p": null,
"transcript": "ENST00000383229.8",
"protein_id": "ENSP00000372716.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 541,
"cds_start": -4,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5293,
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1330-1968C>G",
"hgvs_p": null,
"transcript": "ENST00000332047.10",
"protein_id": "ENSP00000328382.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": -4,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1933C>G",
"hgvs_p": "p.Gln645Glu",
"transcript": "NM_025180.5",
"protein_id": "NP_079456.2",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 703,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2530,
"cdna_end": null,
"cdna_length": 6205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1933C>G",
"hgvs_p": "p.Gln645Glu",
"transcript": "ENST00000513612.7",
"protein_id": "ENSP00000426129.1",
"transcript_support_level": 2,
"aa_start": 645,
"aa_end": null,
"aa_length": 703,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2360,
"cdna_end": null,
"cdna_length": 6035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1933C>G",
"hgvs_p": "p.Gln645Glu",
"transcript": "ENST00000606977.5",
"protein_id": "ENSP00000475903.1",
"transcript_support_level": 5,
"aa_start": 645,
"aa_end": null,
"aa_length": 703,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2261,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1933C>G",
"hgvs_p": "p.Gln645Glu",
"transcript": "ENST00000683596.1",
"protein_id": "ENSP00000506896.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 703,
"cds_start": 1933,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2312,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1849C>G",
"hgvs_p": "p.Gln617Glu",
"transcript": "ENST00000683190.1",
"protein_id": "ENSP00000508034.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 675,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1981,
"cdna_end": null,
"cdna_length": 2392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1795C>G",
"hgvs_p": "p.Gln599Glu",
"transcript": "NM_001353109.1",
"protein_id": "NP_001340038.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 657,
"cds_start": 1795,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 2149,
"cdna_end": null,
"cdna_length": 5821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1795C>G",
"hgvs_p": "p.Gln599Glu",
"transcript": "ENST00000682402.1",
"protein_id": "ENSP00000507548.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 657,
"cds_start": 1795,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1795C>G",
"hgvs_p": "p.Gln599Glu",
"transcript": "ENST00000682458.1",
"protein_id": "ENSP00000507263.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 657,
"cds_start": 1795,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1836,
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"cdna_length": 5511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1966C>G",
"hgvs_p": "p.Gln656Glu",
"transcript": "XM_024453768.2",
"protein_id": "XP_024309536.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 714,
"cds_start": 1966,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2268,
"cdna_end": null,
"cdna_length": 5943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1960C>G",
"hgvs_p": "p.Gln654Glu",
"transcript": "XM_005247795.6",
"protein_id": "XP_005247852.1",
"transcript_support_level": null,
"aa_start": 654,
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"cds_start": 1960,
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"cdna_start": 2055,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1933C>G",
"hgvs_p": "p.Gln645Glu",
"transcript": "XM_005247797.4",
"protein_id": "XP_005247854.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 703,
"cds_start": 1933,
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"cds_length": 2112,
"cdna_start": 2458,
"cdna_end": null,
"cdna_length": 6133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1933C>G",
"hgvs_p": "p.Gln645Glu",
"transcript": "XM_006713760.5",
"protein_id": "XP_006713823.1",
"transcript_support_level": null,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1933C>G",
"hgvs_p": "p.Gln645Glu",
"transcript": "XM_047448996.1",
"protein_id": "XP_047304952.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 703,
"cds_start": 1933,
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"cds_length": 2112,
"cdna_start": 1977,
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"cdna_length": 5652,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1849C>G",
"hgvs_p": "p.Gln617Glu",
"transcript": "XM_024453769.2",
"protein_id": "XP_024309537.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 675,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 2100,
"cdna_end": null,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1849C>G",
"hgvs_p": "p.Gln617Glu",
"transcript": "XM_024453771.2",
"protein_id": "XP_024309539.1",
"transcript_support_level": null,
"aa_start": 617,
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},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1828C>G",
"hgvs_p": "p.Gln610Glu",
"transcript": "XM_047448998.1",
"protein_id": "XP_047304954.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 668,
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"cdna_start": 2130,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
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"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1822C>G",
"hgvs_p": "p.Gln608Glu",
"transcript": "XM_047448999.1",
"protein_id": "XP_047304955.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 666,
"cds_start": 1822,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 5592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1795C>G",
"hgvs_p": "p.Gln599Glu",
"transcript": "XM_017007247.3",
"protein_id": "XP_016862736.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 657,
"cds_start": 1795,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1966,
"cdna_end": null,
"cdna_length": 5641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.1795C>G",
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},
{
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"canonical": false,
"protein_coding": false,
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],
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"exon_count": 15,
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},
{
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"protein_coding": false,
"strand": true,
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"intron_variant"
],
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"gene_symbol": "CEP63",
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"hgvs_c": "n.1992+7397C>G",
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"transcript": "XR_007095733.1",
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},
{
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"strand": true,
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"intron_variant"
],
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"gene_symbol": "CEP63",
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},
{
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"intron_variant"
],
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"gene_symbol": "CEP63",
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}
],
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"dbsnp": "rs200642598",
"frequency_reference_population": 0.0000508229,
"hom_count_reference_population": 0,
"allele_count_reference_population": 82,
"gnomad_exomes_af": 0.0000492716,
"gnomad_genomes_af": 0.0000657212,
"gnomad_exomes_ac": 72,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03473687171936035,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.041,
"revel_prediction": "Benign",
"alphamissense_score": 0.0584,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.274,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000675561.1",
"gene_symbol": "CEP63",
"hgnc_id": 25815,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1933C>G",
"hgvs_p": "p.Gln645Glu"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000472904.6",
"gene_symbol": "ENSG00000288700",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1690+7397C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not specified|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}