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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: 12-106993023-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=106993023&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 106993023,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001413458.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "c.1599G>A",
"hgvs_p": "p.Gly533Gly",
"transcript": "NM_004075.5",
"protein_id": "NP_004066.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 586,
"cds_start": 1599,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000008527.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004075.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "c.1599G>A",
"hgvs_p": "p.Gly533Gly",
"transcript": "ENST00000008527.10",
"protein_id": "ENSP00000008527.5",
"transcript_support_level": 1,
"aa_start": 533,
"aa_end": null,
"aa_length": 586,
"cds_start": 1599,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004075.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000008527.10"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "c.1599G>A",
"hgvs_p": "p.Gly533Gly",
"transcript": "NM_001413458.1",
"protein_id": "NP_001400387.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 606,
"cds_start": 1599,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413458.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "c.1599G>A",
"hgvs_p": "p.Gly533Gly",
"transcript": "NM_001413459.1",
"protein_id": "NP_001400388.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 605,
"cds_start": 1599,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413459.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "c.1599G>A",
"hgvs_p": "p.Gly533Gly",
"transcript": "NM_001413460.1",
"protein_id": "NP_001400389.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 598,
"cds_start": 1599,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413460.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "c.1599G>A",
"hgvs_p": "p.Gly533Gly",
"transcript": "NM_001413461.1",
"protein_id": "NP_001400390.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 586,
"cds_start": 1599,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413461.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "c.1599G>A",
"hgvs_p": "p.Gly533Gly",
"transcript": "NM_001413462.1",
"protein_id": "NP_001400391.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 586,
"cds_start": 1599,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413462.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "c.1599G>A",
"hgvs_p": "p.Gly533Gly",
"transcript": "ENST00000864076.1",
"protein_id": "ENSP00000534135.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 586,
"cds_start": 1599,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864076.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "c.1599G>A",
"hgvs_p": "p.Gly533Gly",
"transcript": "ENST00000864077.1",
"protein_id": "ENSP00000534136.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 586,
"cds_start": 1599,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864077.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "c.1593G>A",
"hgvs_p": "p.Gly531Gly",
"transcript": "NM_001413463.1",
"protein_id": "NP_001400392.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 584,
"cds_start": 1593,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413463.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "c.1593G>A",
"hgvs_p": "p.Gly531Gly",
"transcript": "ENST00000938851.1",
"protein_id": "ENSP00000608910.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 584,
"cds_start": 1593,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938851.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "c.1593G>A",
"hgvs_p": "p.Gly531Gly",
"transcript": "ENST00000938852.1",
"protein_id": "ENSP00000608911.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 584,
"cds_start": 1593,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938852.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "c.1515G>A",
"hgvs_p": "p.Gly505Gly",
"transcript": "NM_001413464.1",
"protein_id": "NP_001400393.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 558,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413464.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "c.1515G>A",
"hgvs_p": "p.Gly505Gly",
"transcript": "NM_001413465.1",
"protein_id": "NP_001400394.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 558,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413465.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "c.1386G>A",
"hgvs_p": "p.Gly462Gly",
"transcript": "ENST00000947484.1",
"protein_id": "ENSP00000617543.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 515,
"cds_start": 1386,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947484.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "c.1212G>A",
"hgvs_p": "p.Gly404Gly",
"transcript": "NM_001413466.1",
"protein_id": "NP_001400395.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 457,
"cds_start": 1212,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413466.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Gly374Gly",
"transcript": "NM_001413467.1",
"protein_id": "NP_001400396.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 427,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413467.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Gly374Gly",
"transcript": "NM_001413468.1",
"protein_id": "NP_001400397.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 427,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413468.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Gly374Gly",
"transcript": "NM_001413469.1",
"protein_id": "NP_001400398.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 427,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413469.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Gly374Gly",
"transcript": "NM_001413470.1",
"protein_id": "NP_001400399.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 427,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413470.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "c.159G>A",
"hgvs_p": "p.Gly53Gly",
"transcript": "ENST00000549356.1",
"protein_id": "ENSP00000447738.1",
"transcript_support_level": 3,
"aa_start": 53,
"aa_end": null,
"aa_length": 106,
"cds_start": 159,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549356.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Gly374Gly",
"transcript": "XM_047428319.1",
"protein_id": "XP_047284275.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 427,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428319.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "n.2178G>A",
"hgvs_p": null,
"transcript": "ENST00000552790.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000552790.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "n.2117G>A",
"hgvs_p": null,
"transcript": "NR_182152.1",
"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": "NR_182152.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"hgvs_c": "n.1753G>A",
"hgvs_p": null,
"transcript": "NR_182153.1",
"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": "NR_182153.1"
}
],
"gene_symbol": "CRY1",
"gene_hgnc_id": 2384,
"dbsnp": "rs142529546",
"frequency_reference_population": 0.00033274633,
"hom_count_reference_population": 0,
"allele_count_reference_population": 537,
"gnomad_exomes_af": 0.000349596,
"gnomad_genomes_af": 0.00017088,
"gnomad_exomes_ac": 511,
"gnomad_genomes_ac": 26,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.30000001192092896,
"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": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.643,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001413458.1",
"gene_symbol": "CRY1",
"hgnc_id": 2384,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1599G>A",
"hgvs_p": "p.Gly533Gly"
}
],
"clinvar_disease": "CRY1-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "CRY1-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}