← 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: 18-44869236-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=44869236&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 44869236,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000649279.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Thr165Ala",
"transcript": "NM_015559.3",
"protein_id": "NP_056374.2",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 1596,
"cds_start": 493,
"cds_end": null,
"cds_length": 4791,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 9909,
"mane_select": "ENST00000649279.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Thr165Ala",
"transcript": "ENST00000649279.2",
"protein_id": "ENSP00000497406.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 1596,
"cds_start": 493,
"cds_end": null,
"cds_length": 4791,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 9909,
"mane_select": "NM_015559.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Thr165Ala",
"transcript": "ENST00000426838.8",
"protein_id": "ENSP00000390687.3",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 242,
"cds_start": 493,
"cds_end": null,
"cds_length": 729,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Thr165Ala",
"transcript": "NM_001379141.1",
"protein_id": "NP_001366070.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 1596,
"cds_start": 493,
"cds_end": null,
"cds_length": 4791,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 10098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Thr165Ala",
"transcript": "NM_001379142.1",
"protein_id": "NP_001366071.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 1596,
"cds_start": 493,
"cds_end": null,
"cds_length": 4791,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 9942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Thr165Ala",
"transcript": "ENST00000677068.1",
"protein_id": "ENSP00000504398.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 1596,
"cds_start": 493,
"cds_end": null,
"cds_length": 4791,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 6280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Thr165Ala",
"transcript": "ENST00000677077.1",
"protein_id": "ENSP00000503656.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 1596,
"cds_start": 493,
"cds_end": null,
"cds_length": 4791,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 9954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Thr165Ala",
"transcript": "ENST00000677130.1",
"protein_id": "ENSP00000503094.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 1596,
"cds_start": 493,
"cds_end": null,
"cds_length": 4791,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 10021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Thr165Ala",
"transcript": "ENST00000678152.1",
"protein_id": "ENSP00000502995.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 1596,
"cds_start": 493,
"cds_end": null,
"cds_length": 4791,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 9849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Thr165Ala",
"transcript": "NM_001410862.1",
"protein_id": "NP_001397791.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 1539,
"cds_start": 493,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 9738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Thr165Ala",
"transcript": "ENST00000677699.1",
"protein_id": "ENSP00000503964.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 1539,
"cds_start": 493,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 9738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Thr165Ala",
"transcript": "NM_001130110.2",
"protein_id": "NP_001123582.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 242,
"cds_start": 493,
"cds_end": null,
"cds_length": 729,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.571A>G",
"hgvs_p": "p.Thr191Ala",
"transcript": "XM_024451149.2",
"protein_id": "XP_024306917.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 1622,
"cds_start": 571,
"cds_end": null,
"cds_length": 4869,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 10176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.571A>G",
"hgvs_p": "p.Thr191Ala",
"transcript": "XM_024451150.2",
"protein_id": "XP_024306918.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 1622,
"cds_start": 571,
"cds_end": null,
"cds_length": 4869,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 9987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.571A>G",
"hgvs_p": "p.Thr191Ala",
"transcript": "XM_024451151.2",
"protein_id": "XP_024306919.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 1622,
"cds_start": 571,
"cds_end": null,
"cds_length": 4869,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 9995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.571A>G",
"hgvs_p": "p.Thr191Ala",
"transcript": "XM_024451152.2",
"protein_id": "XP_024306920.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 1622,
"cds_start": 571,
"cds_end": null,
"cds_length": 4869,
"cdna_start": 950,
"cdna_end": null,
"cdna_length": 10060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.571A>G",
"hgvs_p": "p.Thr191Ala",
"transcript": "XM_047437475.1",
"protein_id": "XP_047293431.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 1622,
"cds_start": 571,
"cds_end": null,
"cds_length": 4869,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 10020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Thr165Ala",
"transcript": "XM_024451154.2",
"protein_id": "XP_024306922.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 1596,
"cds_start": 493,
"cds_end": null,
"cds_length": 4791,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 10093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Thr165Ala",
"transcript": "XM_047437476.1",
"protein_id": "XP_047293432.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 1596,
"cds_start": 493,
"cds_end": null,
"cds_length": 4791,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 9917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.571A>G",
"hgvs_p": "p.Thr191Ala",
"transcript": "XM_024451156.2",
"protein_id": "XP_024306924.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 1565,
"cds_start": 571,
"cds_end": null,
"cds_length": 4698,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 10005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Thr165Ala",
"transcript": "XM_047437477.1",
"protein_id": "XP_047293433.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 1539,
"cds_start": 493,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 9927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.16A>G",
"hgvs_p": "p.Thr6Ala",
"transcript": "XM_024451157.2",
"protein_id": "XP_024306925.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 1437,
"cds_start": 16,
"cds_end": null,
"cds_length": 4314,
"cdna_start": 47679,
"cdna_end": null,
"cdna_length": 56789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.16A>G",
"hgvs_p": "p.Thr6Ala",
"transcript": "XM_047437479.1",
"protein_id": "XP_047293435.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 1437,
"cds_start": 16,
"cds_end": null,
"cds_length": 4314,
"cdna_start": 93805,
"cdna_end": null,
"cdna_length": 102915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.16A>G",
"hgvs_p": "p.Thr6Ala",
"transcript": "XM_047437480.1",
"protein_id": "XP_047293436.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 1437,
"cds_start": 16,
"cds_end": null,
"cds_length": 4314,
"cdna_start": 88860,
"cdna_end": null,
"cdna_length": 97970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.571A>G",
"hgvs_p": "p.Thr191Ala",
"transcript": "XM_024451158.2",
"protein_id": "XP_024306926.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 1422,
"cds_start": 571,
"cds_end": null,
"cds_length": 4269,
"cdna_start": 1066,
"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": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "n.502A>G",
"hgvs_p": null,
"transcript": "ENST00000645568.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETBP1",
"gene_hgnc_id": 15573,
"hgvs_c": "c.-165A>G",
"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": "rs770804298",
"frequency_reference_population": 0.0000020523205,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205232,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.054765552282333374,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.094,
"revel_prediction": "Benign",
"alphamissense_score": 0.0578,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.116,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000649279.2",
"gene_symbol": "SETBP1",
"hgnc_id": 15573,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Thr165Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}