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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: 4-26415476-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=26415476&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 26415476,
"ref": "T",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000355476.8",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.157T>G",
"hgvs_p": "p.Phe53Val",
"transcript": "NM_015874.6",
"protein_id": "NP_056958.3",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 487,
"cds_start": 157,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 172,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": "ENST00000355476.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.157T>G",
"hgvs_p": "p.Phe53Val",
"transcript": "ENST00000355476.8",
"protein_id": "ENSP00000347659.4",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 487,
"cds_start": 157,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 172,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": "NM_015874.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.196T>G",
"hgvs_p": "p.Phe66Val",
"transcript": "ENST00000361572.10",
"protein_id": "ENSP00000354528.6",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 500,
"cds_start": 196,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "ENST00000342320.8",
"protein_id": "ENSP00000340124.4",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 486,
"cds_start": 154,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 5761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "ENST00000348160.9",
"protein_id": "ENSP00000339699.5",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 486,
"cds_start": 154,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 1998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.91T>G",
"hgvs_p": "p.Phe31Val",
"transcript": "ENST00000345843.8",
"protein_id": "ENSP00000305815.6",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 465,
"cds_start": 91,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 1682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.91T>G",
"hgvs_p": "p.Phe31Val",
"transcript": "ENST00000507561.5",
"protein_id": "ENSP00000423907.1",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 465,
"cds_start": 91,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.196T>G",
"hgvs_p": "p.Phe66Val",
"transcript": "NM_001374400.1",
"protein_id": "NP_001361329.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 500,
"cds_start": 196,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 5709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.196T>G",
"hgvs_p": "p.Phe66Val",
"transcript": "NM_005349.4",
"protein_id": "NP_005340.2",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 500,
"cds_start": 196,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 5827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.196T>G",
"hgvs_p": "p.Phe66Val",
"transcript": "ENST00000342295.6",
"protein_id": "ENSP00000345206.1",
"transcript_support_level": 5,
"aa_start": 66,
"aa_end": null,
"aa_length": 500,
"cds_start": 196,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.196T>G",
"hgvs_p": "p.Phe66Val",
"transcript": "ENST00000512671.6",
"protein_id": "ENSP00000423644.2",
"transcript_support_level": 2,
"aa_start": 66,
"aa_end": null,
"aa_length": 500,
"cds_start": 196,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 1843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "NM_001374401.1",
"protein_id": "NP_001361330.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 486,
"cds_start": 154,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 5908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "NM_001374402.1",
"protein_id": "NP_001361331.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 486,
"cds_start": 154,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 5811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "NM_001374403.1",
"protein_id": "NP_001361332.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 486,
"cds_start": 154,
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"cdna_start": 404,
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"cdna_length": 5835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "NM_001379406.1",
"protein_id": "NP_001366335.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 486,
"cds_start": 154,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 5894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "NM_001379407.1",
"protein_id": "NP_001366336.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 486,
"cds_start": 154,
"cds_end": null,
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"cdna_start": 579,
"cdna_end": null,
"cdna_length": 6010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "NM_203284.3",
"protein_id": "NP_976029.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 486,
"cds_start": 154,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 5786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "ENST00000505958.6",
"protein_id": "ENSP00000426872.2",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 486,
"cds_start": 154,
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"cdna_start": 827,
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"cdna_length": 2136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "ENST00000680928.1",
"protein_id": "ENSP00000505493.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 486,
"cds_start": 154,
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"cdna_start": 372,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "ENST00000681093.1",
"protein_id": "ENSP00000504964.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 486,
"cds_start": 154,
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"cdna_start": 666,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.91T>G",
"hgvs_p": "p.Phe31Val",
"transcript": "NM_001363577.2",
"protein_id": "NP_001350506.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 465,
"cds_start": 91,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 6212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.91T>G",
"hgvs_p": "p.Phe31Val",
"transcript": "NM_203283.5",
"protein_id": "NP_976028.2",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 465,
"cds_start": 91,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 5711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
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"exon_count": 13,
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"gene_symbol": "RBPJ",
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"hgvs_c": "n.*86T>G",
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"transcript": "ENST00000681506.1",
"protein_id": "ENSP00000504925.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 13,
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"gene_symbol": "RBPJ",
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"hgvs_c": "n.*35T>G",
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"transcript": "ENST00000681799.1",
"protein_id": "ENSP00000504876.1",
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"cdna_length": 1534,
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}
],
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"dbsnp": "rs1553880029",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9532326459884644,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1340000033378601,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.918,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9998,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.674,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0156963453314132,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000355476.8",
"gene_symbol": "RBPJ",
"hgnc_id": 5724,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.157T>G",
"hgvs_p": "p.Phe53Val"
}
],
"clinvar_disease": "Adams-Oliver syndrome 3",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Adams-Oliver syndrome 3",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}