← 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: 18-44876705-C-CTCTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=44876705&ref=C&alt=CTCTT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 44876705,
"ref": "C",
"alt": "CTCTT",
"effect": "intron_variant",
"transcript": "ENST00000649279.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "SY?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.681_682insTCTT",
"hgvs_p": "p.Thr228fs",
"transcript": "ENST00000426838.8",
"protein_id": "ENSP00000390687.3",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 242,
"cds_start": 682,
"cds_end": null,
"cds_length": 729,
"cdna_start": 1077,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.540+7422_540+7423insTCTT",
"hgvs_p": null,
"transcript": "NM_015559.3",
"protein_id": "NP_056374.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1596,
"cds_start": -4,
"cds_end": null,
"cds_length": 4791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9909,
"mane_select": "ENST00000649279.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.540+7422_540+7423insTCTT",
"hgvs_p": null,
"transcript": "ENST00000649279.2",
"protein_id": "ENSP00000497406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1596,
"cds_start": -4,
"cds_end": null,
"cds_length": 4791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9909,
"mane_select": "NM_015559.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "SY?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.681_682insTCTT",
"hgvs_p": "p.Thr228fs",
"transcript": "NM_001130110.2",
"protein_id": "NP_001123582.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 242,
"cds_start": 682,
"cds_end": null,
"cds_length": 729,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.540+7422_540+7423insTCTT",
"hgvs_p": null,
"transcript": "NM_001379141.1",
"protein_id": "NP_001366070.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1596,
"cds_start": -4,
"cds_end": null,
"cds_length": 4791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.540+7422_540+7423insTCTT",
"hgvs_p": null,
"transcript": "NM_001379142.1",
"protein_id": "NP_001366071.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1596,
"cds_start": -4,
"cds_end": null,
"cds_length": 4791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.540+7422_540+7423insTCTT",
"hgvs_p": null,
"transcript": "ENST00000677068.1",
"protein_id": "ENSP00000504398.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1596,
"cds_start": -4,
"cds_end": null,
"cds_length": 4791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.540+7422_540+7423insTCTT",
"hgvs_p": null,
"transcript": "ENST00000677077.1",
"protein_id": "ENSP00000503656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1596,
"cds_start": -4,
"cds_end": null,
"cds_length": 4791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.540+7422_540+7423insTCTT",
"hgvs_p": null,
"transcript": "ENST00000677130.1",
"protein_id": "ENSP00000503094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1596,
"cds_start": -4,
"cds_end": null,
"cds_length": 4791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.540+7422_540+7423insTCTT",
"hgvs_p": null,
"transcript": "ENST00000678152.1",
"protein_id": "ENSP00000502995.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1596,
"cds_start": -4,
"cds_end": null,
"cds_length": 4791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.540+7422_540+7423insTCTT",
"hgvs_p": null,
"transcript": "NM_001410862.1",
"protein_id": "NP_001397791.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1539,
"cds_start": -4,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.540+7422_540+7423insTCTT",
"hgvs_p": null,
"transcript": "ENST00000677699.1",
"protein_id": "ENSP00000503964.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1539,
"cds_start": -4,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.618+7422_618+7423insTCTT",
"hgvs_p": null,
"transcript": "XM_024451149.2",
"protein_id": "XP_024306917.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1622,
"cds_start": -4,
"cds_end": null,
"cds_length": 4869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.618+7422_618+7423insTCTT",
"hgvs_p": null,
"transcript": "XM_024451150.2",
"protein_id": "XP_024306918.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1622,
"cds_start": -4,
"cds_end": null,
"cds_length": 4869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.618+7422_618+7423insTCTT",
"hgvs_p": null,
"transcript": "XM_024451151.2",
"protein_id": "XP_024306919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1622,
"cds_start": -4,
"cds_end": null,
"cds_length": 4869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.618+7422_618+7423insTCTT",
"hgvs_p": null,
"transcript": "XM_024451152.2",
"protein_id": "XP_024306920.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1622,
"cds_start": -4,
"cds_end": null,
"cds_length": 4869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.618+7422_618+7423insTCTT",
"hgvs_p": null,
"transcript": "XM_047437475.1",
"protein_id": "XP_047293431.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1622,
"cds_start": -4,
"cds_end": null,
"cds_length": 4869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.540+7422_540+7423insTCTT",
"hgvs_p": null,
"transcript": "XM_024451154.2",
"protein_id": "XP_024306922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1596,
"cds_start": -4,
"cds_end": null,
"cds_length": 4791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.540+7422_540+7423insTCTT",
"hgvs_p": null,
"transcript": "XM_047437476.1",
"protein_id": "XP_047293432.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1596,
"cds_start": -4,
"cds_end": null,
"cds_length": 4791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.618+7422_618+7423insTCTT",
"hgvs_p": null,
"transcript": "XM_024451156.2",
"protein_id": "XP_024306924.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1565,
"cds_start": -4,
"cds_end": null,
"cds_length": 4698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.540+7422_540+7423insTCTT",
"hgvs_p": null,
"transcript": "XM_047437477.1",
"protein_id": "XP_047293433.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1539,
"cds_start": -4,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.63+7422_63+7423insTCTT",
"hgvs_p": null,
"transcript": "XM_024451157.2",
"protein_id": "XP_024306925.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1437,
"cds_start": -4,
"cds_end": null,
"cds_length": 4314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 56789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.63+7422_63+7423insTCTT",
"hgvs_p": null,
"transcript": "XM_047437479.1",
"protein_id": "XP_047293435.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1437,
"cds_start": -4,
"cds_end": null,
"cds_length": 4314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 102915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.63+7422_63+7423insTCTT",
"hgvs_p": null,
"transcript": "XM_047437480.1",
"protein_id": "XP_047293436.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1437,
"cds_start": -4,
"cds_end": null,
"cds_length": 4314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 97970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.618+7422_618+7423insTCTT",
"hgvs_p": null,
"transcript": "XM_024451158.2",
"protein_id": "XP_024306926.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1422,
"cds_start": -4,
"cds_end": null,
"cds_length": 4269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 31602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.-118+7422_-118+7423insTCTT",
"hgvs_p": null,
"transcript": "XM_047437481.1",
"protein_id": "XP_047293437.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1377,
"cds_start": -4,
"cds_end": null,
"cds_length": 4134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 97668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"dbsnp": "rs3085861",
"frequency_reference_population": 0.54614127,
"hom_count_reference_population": 232434,
"allele_count_reference_population": 844768,
"gnomad_exomes_af": 0.547041,
"gnomad_genomes_af": 0.537854,
"gnomad_exomes_ac": 763310,
"gnomad_genomes_ac": 81458,
"gnomad_exomes_homalt": 210469,
"gnomad_genomes_homalt": 21965,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -1.283,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000649279.2",
"gene_symbol": "SETBP1",
"hgnc_id": 15573,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.540+7422_540+7423insTCTT",
"hgvs_p": null
}
],
"clinvar_disease": "Schinzel-Giedion syndrome,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "Schinzel-Giedion syndrome|not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}