← Back to variant description
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": "NM_005349.4",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355476.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015874.6"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015874.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355476.8"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361572.10"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342320.8"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348160.9"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345843.8"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507561.5"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374400.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005349.4"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342295.6"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512671.6"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374401.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374402.1"
},
{
"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,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374403.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379406.1"
},
{
"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,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379407.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203284.3"
},
{
"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,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505958.6"
},
{
"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,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680928.1"
},
{
"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,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681093.1"
},
{
"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": "ENST00000914590.1",
"protein_id": "ENSP00000584649.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 470,
"cds_start": 157,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914590.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363577.2"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203283.5"
},
{
"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": "ENST00000504423.2",
"protein_id": "ENSP00000421804.2",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 465,
"cds_start": 91,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504423.2"
},
{
"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.91T>G",
"hgvs_p": "p.Phe31Val",
"transcript": "ENST00000681264.1",
"protein_id": "ENSP00000505255.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 465,
"cds_start": 91,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681264.1"
},
{
"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": "ENST00000681484.1",
"protein_id": "ENSP00000505636.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 465,
"cds_start": 91,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681484.1"
},
{
"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.91T>G",
"hgvs_p": "p.Phe31Val",
"transcript": "ENST00000681260.1",
"protein_id": "ENSP00000505479.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 462,
"cds_start": 91,
"cds_end": null,
"cds_length": 1391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681260.1"
},
{
"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": "ENST00000892728.1",
"protein_id": "ENSP00000562787.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 461,
"cds_start": 157,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892728.1"
},
{
"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.91T>G",
"hgvs_p": "p.Phe31Val",
"transcript": "ENST00000681856.1",
"protein_id": "ENSP00000505922.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 456,
"cds_start": 91,
"cds_end": null,
"cds_length": 1373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681856.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.61T>G",
"hgvs_p": "p.Phe21Val",
"transcript": "ENST00000914589.1",
"protein_id": "ENSP00000584648.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 455,
"cds_start": 61,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914589.1"
},
{
"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": 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": "NM_001379408.1",
"protein_id": "NP_001366337.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 448,
"cds_start": 196,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379408.1"
},
{
"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": 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": "ENST00000680140.1",
"protein_id": "ENSP00000506443.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 440,
"cds_start": 154,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680140.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.157T>G",
"hgvs_p": "p.Phe53Val",
"transcript": "ENST00000962333.1",
"protein_id": "ENSP00000632392.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 440,
"cds_start": 157,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962333.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.157T>G",
"hgvs_p": "p.Phe53Val",
"transcript": "ENST00000892727.1",
"protein_id": "ENSP00000562786.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 435,
"cds_start": 157,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892727.1"
},
{
"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": 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": "ENST00000509158.6",
"protein_id": "ENSP00000424804.2",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 434,
"cds_start": 154,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509158.6"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.151T>G",
"hgvs_p": "p.Phe51Val",
"transcript": "NM_001379409.1",
"protein_id": "NP_001366338.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 433,
"cds_start": 151,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379409.1"
},
{
"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.91T>G",
"hgvs_p": "p.Phe31Val",
"transcript": "ENST00000680511.1",
"protein_id": "ENSP00000506628.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 433,
"cds_start": 91,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680511.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.157T>G",
"hgvs_p": "p.Phe53Val",
"transcript": "ENST00000914588.1",
"protein_id": "ENSP00000584646.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 388,
"cds_start": 157,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914588.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "ENST00000504907.5",
"protein_id": "ENSP00000423703.1",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 382,
"cds_start": 154,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504907.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.91T>G",
"hgvs_p": "p.Phe31Val",
"transcript": "ENST00000515573.5",
"protein_id": "ENSP00000423406.1",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 188,
"cds_start": 91,
"cds_end": null,
"cds_length": 568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515573.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.91T>G",
"hgvs_p": "p.Phe31Val",
"transcript": "ENST00000507574.5",
"protein_id": "ENSP00000422617.1",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 156,
"cds_start": 91,
"cds_end": null,
"cds_length": 472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507574.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.91T>G",
"hgvs_p": "p.Phe31Val",
"transcript": "ENST00000504938.1",
"protein_id": "ENSP00000424459.1",
"transcript_support_level": 3,
"aa_start": 31,
"aa_end": null,
"aa_length": 142,
"cds_start": 91,
"cds_end": null,
"cds_length": 430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504938.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "ENST00000514730.5",
"protein_id": "ENSP00000425061.1",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 112,
"cds_start": 154,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514730.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "ENST00000514675.5",
"protein_id": "ENSP00000423575.1",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 109,
"cds_start": 154,
"cds_end": null,
"cds_length": 331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514675.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "ENST00000511546.5",
"protein_id": "ENSP00000422838.1",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 106,
"cds_start": 154,
"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": "ENST00000511546.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "ENST00000506956.5",
"protein_id": "ENSP00000425750.1",
"transcript_support_level": 4,
"aa_start": 52,
"aa_end": null,
"aa_length": 96,
"cds_start": 154,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506956.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.154T>G",
"hgvs_p": "p.Phe52Val",
"transcript": "ENST00000512351.5",
"protein_id": "ENSP00000424789.1",
"transcript_support_level": 4,
"aa_start": 52,
"aa_end": null,
"aa_length": 93,
"cds_start": 154,
"cds_end": null,
"cds_length": 283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512351.5"
},
{
"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.214T>G",
"hgvs_p": "p.Phe72Val",
"transcript": "XM_047415656.1",
"protein_id": "XP_047271612.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 506,
"cds_start": 214,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415656.1"
},
{
"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.199T>G",
"hgvs_p": "p.Phe67Val",
"transcript": "XM_017008171.3",
"protein_id": "XP_016863660.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 501,
"cds_start": 199,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008171.3"
},
{
"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": "XM_011513840.4",
"protein_id": "XP_011512142.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 486,
"cds_start": 154,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513840.4"
},
{
"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": "XM_047415657.1",
"protein_id": "XP_047271613.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 486,
"cds_start": 154,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415657.1"
},
{
"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.91T>G",
"hgvs_p": "p.Phe31Val",
"transcript": "XM_047415658.1",
"protein_id": "XP_047271614.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 465,
"cds_start": 91,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415658.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "n.157T>G",
"hgvs_p": null,
"transcript": "ENST00000510778.7",
"protein_id": "ENSP00000427170.3",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000510778.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "n.413T>G",
"hgvs_p": null,
"transcript": "ENST00000511401.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000511401.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "n.290T>G",
"hgvs_p": null,
"transcript": "ENST00000511451.5",
"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": "ENST00000511451.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "n.*246T>G",
"hgvs_p": null,
"transcript": "ENST00000513182.5",
"protein_id": "ENSP00000427344.1",
"transcript_support_level": 4,
"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": "nonsense_mediated_decay",
"feature": "ENST00000513182.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "n.228T>G",
"hgvs_p": null,
"transcript": "ENST00000514380.5",
"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": "ENST00000514380.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_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": "n.293T>G",
"hgvs_p": null,
"transcript": "ENST00000515023.6",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000515023.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_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": "n.198T>G",
"hgvs_p": null,
"transcript": "ENST00000679469.1",
"protein_id": "ENSP00000504953.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000679469.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_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": "n.*86T>G",
"hgvs_p": null,
"transcript": "ENST00000679698.1",
"protein_id": "ENSP00000506331.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000679698.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "n.*246T>G",
"hgvs_p": null,
"transcript": "ENST00000680204.1",
"protein_id": "ENSP00000506010.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000680204.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "n.*86T>G",
"hgvs_p": null,
"transcript": "ENST00000680210.1",
"protein_id": "ENSP00000505411.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000680210.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_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": "n.*35T>G",
"hgvs_p": null,
"transcript": "ENST00000681025.1",
"protein_id": "ENSP00000504979.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000681025.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "n.405T>G",
"hgvs_p": null,
"transcript": "ENST00000681403.1",
"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": "retained_intron",
"feature": "ENST00000681403.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_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": "n.*86T>G",
"hgvs_p": null,
"transcript": "ENST00000681506.1",
"protein_id": "ENSP00000504925.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000681506.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "n.154T>G",
"hgvs_p": null,
"transcript": "ENST00000681679.1",
"protein_id": "ENSP00000505870.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000681679.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "n.*35T>G",
"hgvs_p": null,
"transcript": "ENST00000681799.1",
"protein_id": "ENSP00000504876.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000681799.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "n.199T>G",
"hgvs_p": null,
"transcript": "ENST00000689192.1",
"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": "retained_intron",
"feature": "ENST00000689192.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "n.183T>G",
"hgvs_p": null,
"transcript": "ENST00000691085.1",
"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": "retained_intron",
"feature": "ENST00000691085.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "n.183T>G",
"hgvs_p": null,
"transcript": "ENST00000692303.1",
"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": "retained_intron",
"feature": "ENST00000692303.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "n.*246T>G",
"hgvs_p": null,
"transcript": "ENST00000513182.5",
"protein_id": "ENSP00000427344.1",
"transcript_support_level": 4,
"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": "nonsense_mediated_decay",
"feature": "ENST00000513182.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_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": "n.*86T>G",
"hgvs_p": null,
"transcript": "ENST00000679698.1",
"protein_id": "ENSP00000506331.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000679698.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "n.*246T>G",
"hgvs_p": null,
"transcript": "ENST00000680204.1",
"protein_id": "ENSP00000506010.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000680204.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "n.*86T>G",
"hgvs_p": null,
"transcript": "ENST00000680210.1",
"protein_id": "ENSP00000505411.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000680210.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_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": "n.*35T>G",
"hgvs_p": null,
"transcript": "ENST00000681025.1",
"protein_id": "ENSP00000504979.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000681025.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_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": "n.*86T>G",
"hgvs_p": null,
"transcript": "ENST00000681506.1",
"protein_id": "ENSP00000504925.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000681506.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "n.*35T>G",
"hgvs_p": null,
"transcript": "ENST00000681799.1",
"protein_id": "ENSP00000504876.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000681799.1"
}
],
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_005349.4",
"gene_symbol": "RBPJ",
"hgnc_id": 5724,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.196T>G",
"hgvs_p": "p.Phe66Val"
}
],
"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
}