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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: 3-134507257-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=134507257&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 134507257,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000675561.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "NM_001353108.3",
"protein_id": "NP_001340037.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 703,
"cds_start": 193,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 5779,
"mane_select": "ENST00000675561.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "ENST00000675561.1",
"protein_id": "ENSP00000502085.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 703,
"cds_start": 193,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 5779,
"mane_select": "NM_001353108.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "ENST00000383229.8",
"protein_id": "ENSP00000372716.3",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 541,
"cds_start": 193,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 5293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "ENST00000332047.10",
"protein_id": "ENSP00000328382.5",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 495,
"cds_start": 193,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 5319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.-189A>G",
"hgvs_p": null,
"transcript": "NM_001353126.2",
"protein_id": "NP_001340055.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "NM_025180.5",
"protein_id": "NP_079456.2",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 703,
"cds_start": 193,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 6205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "ENST00000513612.7",
"protein_id": "ENSP00000426129.1",
"transcript_support_level": 2,
"aa_start": 65,
"aa_end": null,
"aa_length": 703,
"cds_start": 193,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 6035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "ENST00000606977.5",
"protein_id": "ENSP00000475903.1",
"transcript_support_level": 5,
"aa_start": 65,
"aa_end": null,
"aa_length": 703,
"cds_start": 193,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "ENST00000683596.1",
"protein_id": "ENSP00000506896.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 703,
"cds_start": 193,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.109A>G",
"hgvs_p": "p.Arg37Gly",
"transcript": "ENST00000683190.1",
"protein_id": "ENSP00000508034.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 675,
"cds_start": 109,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 2392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "NM_001353109.1",
"protein_id": "NP_001340038.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 657,
"cds_start": 193,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 5821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "ENST00000682402.1",
"protein_id": "ENSP00000507548.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 657,
"cds_start": 193,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "ENST00000682458.1",
"protein_id": "ENSP00000507263.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 657,
"cds_start": 193,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 5511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "NM_001042400.3",
"protein_id": "NP_001035859.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 541,
"cds_start": 193,
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"cdna_start": 364,
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"cdna_length": 5293,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "NM_001353110.1",
"protein_id": "NP_001340039.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 541,
"cds_start": 193,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 5473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "NM_001353111.2",
"protein_id": "NP_001340040.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 541,
"cds_start": 193,
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"cdna_start": 718,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "NM_001353112.2",
"protein_id": "NP_001340041.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 541,
"cds_start": 193,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 5719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "ENST00000683608.1",
"protein_id": "ENSP00000507704.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 541,
"cds_start": 193,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 5496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "ENST00000684217.1",
"protein_id": "ENSP00000508291.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 541,
"cds_start": 193,
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"cdna_start": 517,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "ENST00000684677.1",
"protein_id": "ENSP00000507217.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 541,
"cds_start": 193,
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"cds_length": 1626,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "NM_001353113.1",
"protein_id": "NP_001340042.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 521,
"cds_start": 193,
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"cdna_start": 547,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "NM_001353117.2",
"protein_id": "NP_001340046.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 521,
"cds_start": 193,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "ENST00000514678.2",
"protein_id": "ENSP00000427526.2",
"transcript_support_level": 3,
"aa_start": 65,
"aa_end": null,
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"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "n.528A>G",
"hgvs_p": null,
"transcript": "XR_007095734.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "n.364A>G",
"hgvs_p": null,
"transcript": "XR_007095735.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"hgvs_c": "c.-189A>G",
"hgvs_p": null,
"transcript": "NM_001353126.2",
"protein_id": "NP_001340055.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CEP63",
"gene_hgnc_id": 25815,
"dbsnp": "rs142629260",
"frequency_reference_population": 0.00007250418,
"hom_count_reference_population": 1,
"allele_count_reference_population": 117,
"gnomad_exomes_af": 0.0000704767,
"gnomad_genomes_af": 0.0000919697,
"gnomad_exomes_ac": 103,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.013151377439498901,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.126,
"revel_prediction": "Benign",
"alphamissense_score": 0.1338,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.059,
"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": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000675561.1",
"gene_symbol": "CEP63",
"hgnc_id": 25815,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000472904.6",
"gene_symbol": "ENSG00000288700",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.554A>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
}