← 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: 22-50454858-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50454858&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50454858,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000380817.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.4768A>G",
"hgvs_p": "p.Thr1590Ala",
"transcript": "NM_002972.4",
"protein_id": "NP_002963.2",
"transcript_support_level": null,
"aa_start": 1590,
"aa_end": null,
"aa_length": 1893,
"cds_start": 4768,
"cds_end": null,
"cds_length": 5682,
"cdna_start": 4963,
"cdna_end": null,
"cdna_length": 8019,
"mane_select": "ENST00000380817.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.4768A>G",
"hgvs_p": "p.Thr1590Ala",
"transcript": "ENST00000380817.8",
"protein_id": "ENSP00000370196.2",
"transcript_support_level": 1,
"aa_start": 1590,
"aa_end": null,
"aa_length": 1893,
"cds_start": 4768,
"cds_end": null,
"cds_length": 5682,
"cdna_start": 4963,
"cdna_end": null,
"cdna_length": 8019,
"mane_select": "NM_002972.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Thr134Ala",
"transcript": "ENST00000418590.4",
"protein_id": "ENSP00000401538.2",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 425,
"cds_start": 400,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.4786A>G",
"hgvs_p": "p.Thr1596Ala",
"transcript": "ENST00000693052.1",
"protein_id": "ENSP00000509558.1",
"transcript_support_level": null,
"aa_start": 1596,
"aa_end": null,
"aa_length": 1899,
"cds_start": 4786,
"cds_end": null,
"cds_length": 5700,
"cdna_start": 4952,
"cdna_end": null,
"cdna_length": 6202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.4771A>G",
"hgvs_p": "p.Thr1591Ala",
"transcript": "NM_001410794.1",
"protein_id": "NP_001397723.1",
"transcript_support_level": null,
"aa_start": 1591,
"aa_end": null,
"aa_length": 1894,
"cds_start": 4771,
"cds_end": null,
"cds_length": 5685,
"cdna_start": 4966,
"cdna_end": null,
"cdna_length": 8022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.4771A>G",
"hgvs_p": "p.Thr1591Ala",
"transcript": "ENST00000684986.1",
"protein_id": "ENSP00000509117.1",
"transcript_support_level": null,
"aa_start": 1591,
"aa_end": null,
"aa_length": 1894,
"cds_start": 4771,
"cds_end": null,
"cds_length": 5685,
"cdna_start": 4956,
"cdna_end": null,
"cdna_length": 6200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.4768A>G",
"hgvs_p": "p.Thr1590Ala",
"transcript": "ENST00000688066.1",
"protein_id": "ENSP00000510782.1",
"transcript_support_level": null,
"aa_start": 1590,
"aa_end": null,
"aa_length": 1893,
"cds_start": 4768,
"cds_end": null,
"cds_length": 5682,
"cdna_start": 4938,
"cdna_end": null,
"cdna_length": 6110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.4765A>G",
"hgvs_p": "p.Thr1589Ala",
"transcript": "ENST00000693440.1",
"protein_id": "ENSP00000509462.1",
"transcript_support_level": null,
"aa_start": 1589,
"aa_end": null,
"aa_length": 1892,
"cds_start": 4765,
"cds_end": null,
"cds_length": 5679,
"cdna_start": 4937,
"cdna_end": null,
"cdna_length": 6187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.4762A>G",
"hgvs_p": "p.Thr1588Ala",
"transcript": "ENST00000690990.1",
"protein_id": "ENSP00000510461.1",
"transcript_support_level": null,
"aa_start": 1588,
"aa_end": null,
"aa_length": 1891,
"cds_start": 4762,
"cds_end": null,
"cds_length": 5676,
"cdna_start": 4941,
"cdna_end": null,
"cdna_length": 6191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.4756A>G",
"hgvs_p": "p.Thr1586Ala",
"transcript": "ENST00000691792.1",
"protein_id": "ENSP00000509911.1",
"transcript_support_level": null,
"aa_start": 1586,
"aa_end": null,
"aa_length": 1888,
"cds_start": 4756,
"cds_end": null,
"cds_length": 5667,
"cdna_start": 4946,
"cdna_end": null,
"cdna_length": 6179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.4768A>G",
"hgvs_p": "p.Thr1590Ala",
"transcript": "ENST00000689981.1",
"protein_id": "ENSP00000509035.1",
"transcript_support_level": null,
"aa_start": 1590,
"aa_end": null,
"aa_length": 1880,
"cds_start": 4768,
"cds_end": null,
"cds_length": 5643,
"cdna_start": 4963,
"cdna_end": null,
"cdna_length": 6174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.4693A>G",
"hgvs_p": "p.Thr1565Ala",
"transcript": "NM_001365819.1",
"protein_id": "NP_001352748.1",
"transcript_support_level": null,
"aa_start": 1565,
"aa_end": null,
"aa_length": 1868,
"cds_start": 4693,
"cds_end": null,
"cds_length": 5607,
"cdna_start": 4888,
"cdna_end": null,
"cdna_length": 7944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.4693A>G",
"hgvs_p": "p.Thr1565Ala",
"transcript": "ENST00000689129.1",
"protein_id": "ENSP00000510414.1",
"transcript_support_level": null,
"aa_start": 1565,
"aa_end": null,
"aa_length": 1868,
"cds_start": 4693,
"cds_end": null,
"cds_length": 5607,
"cdna_start": 4924,
"cdna_end": null,
"cdna_length": 8669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.4690A>G",
"hgvs_p": "p.Thr1564Ala",
"transcript": "NM_001410795.1",
"protein_id": "NP_001397724.1",
"transcript_support_level": null,
"aa_start": 1564,
"aa_end": null,
"aa_length": 1867,
"cds_start": 4690,
"cds_end": null,
"cds_length": 5604,
"cdna_start": 4885,
"cdna_end": null,
"cdna_length": 7941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.4690A>G",
"hgvs_p": "p.Thr1564Ala",
"transcript": "ENST00000348911.11",
"protein_id": "ENSP00000252027.8",
"transcript_support_level": 5,
"aa_start": 1564,
"aa_end": null,
"aa_length": 1867,
"cds_start": 4690,
"cds_end": null,
"cds_length": 5604,
"cdna_start": 4875,
"cdna_end": null,
"cdna_length": 6125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.4687A>G",
"hgvs_p": "p.Thr1563Ala",
"transcript": "ENST00000691233.1",
"protein_id": "ENSP00000509215.1",
"transcript_support_level": null,
"aa_start": 1563,
"aa_end": null,
"aa_length": 1866,
"cds_start": 4687,
"cds_end": null,
"cds_length": 5601,
"cdna_start": 4880,
"cdna_end": null,
"cdna_length": 6130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.4681A>G",
"hgvs_p": "p.Thr1561Ala",
"transcript": "ENST00000685809.1",
"protein_id": "ENSP00000508863.1",
"transcript_support_level": null,
"aa_start": 1561,
"aa_end": null,
"aa_length": 1864,
"cds_start": 4681,
"cds_end": null,
"cds_length": 5595,
"cdna_start": 4882,
"cdna_end": null,
"cdna_length": 6132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.4669A>G",
"hgvs_p": "p.Thr1557Ala",
"transcript": "ENST00000687016.1",
"protein_id": "ENSP00000509074.1",
"transcript_support_level": null,
"aa_start": 1557,
"aa_end": null,
"aa_length": 1859,
"cds_start": 4669,
"cds_end": null,
"cds_length": 5580,
"cdna_start": 4845,
"cdna_end": null,
"cdna_length": 6091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.847A>G",
"hgvs_p": "p.Thr283Ala",
"transcript": "ENST00000691306.1",
"protein_id": "ENSP00000508964.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 409,
"cds_start": 847,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 1232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.844A>G",
"hgvs_p": "p.Thr282Ala",
"transcript": "ENST00000686029.1",
"protein_id": "ENSP00000510100.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 295,
"cds_start": 844,
"cds_end": null,
"cds_length": 888,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.1171A>G",
"hgvs_p": null,
"transcript": "ENST00000470434.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.2736A>G",
"hgvs_p": null,
"transcript": "ENST00000685390.1",
"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": 5656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.518A>G",
"hgvs_p": null,
"transcript": "ENST00000685411.1",
"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": 2016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.1000A>G",
"hgvs_p": null,
"transcript": "ENST00000685592.1",
"protein_id": "ENSP00000510664.1",
"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": 2088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.3968A>G",
"hgvs_p": null,
"transcript": "ENST00000686191.1",
"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": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.*4190A>G",
"hgvs_p": null,
"transcript": "ENST00000686222.1",
"protein_id": "ENSP00000508737.1",
"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": 6180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.862A>G",
"hgvs_p": null,
"transcript": "ENST00000686321.1",
"protein_id": "ENSP00000510774.1",
"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": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.*1703A>G",
"hgvs_p": null,
"transcript": "ENST00000686427.1",
"protein_id": "ENSP00000510379.1",
"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": 5994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.2582A>G",
"hgvs_p": null,
"transcript": "ENST00000686758.1",
"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": 3611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.4756A>G",
"hgvs_p": null,
"transcript": "ENST00000686801.1",
"protein_id": "ENSP00000509915.1",
"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": 6069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.1087A>G",
"hgvs_p": null,
"transcript": "ENST00000686826.1",
"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": 2337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.*2493A>G",
"hgvs_p": null,
"transcript": "ENST00000687704.1",
"protein_id": "ENSP00000510454.1",
"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": 6132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.*3686A>G",
"hgvs_p": null,
"transcript": "ENST00000688124.1",
"protein_id": "ENSP00000510645.1",
"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": 6077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.*4112A>G",
"hgvs_p": null,
"transcript": "ENST00000688848.1",
"protein_id": "ENSP00000509419.1",
"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": 6091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.*635A>G",
"hgvs_p": null,
"transcript": "ENST00000688985.1",
"protein_id": "ENSP00000510477.1",
"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": 3007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.6040A>G",
"hgvs_p": null,
"transcript": "ENST00000689177.1",
"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": 7335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.862A>G",
"hgvs_p": null,
"transcript": "ENST00000689849.1",
"protein_id": "ENSP00000509742.1",
"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": 3765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.4786A>G",
"hgvs_p": null,
"transcript": "ENST00000690369.1",
"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": 6031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.1815A>G",
"hgvs_p": null,
"transcript": "ENST00000690590.1",
"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": 3052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.5487A>G",
"hgvs_p": null,
"transcript": "ENST00000691959.1",
"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": 9838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.1852A>G",
"hgvs_p": null,
"transcript": "ENST00000692844.1",
"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": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.862A>G",
"hgvs_p": null,
"transcript": "ENST00000692946.1",
"protein_id": "ENSP00000510472.1",
"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": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.1927A>G",
"hgvs_p": null,
"transcript": "ENST00000693289.1",
"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": 2167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.5764A>G",
"hgvs_p": null,
"transcript": "ENST00000693499.1",
"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": 6004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.3576A>G",
"hgvs_p": null,
"transcript": "ENST00000693591.1",
"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": 4783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.*4190A>G",
"hgvs_p": null,
"transcript": "ENST00000686222.1",
"protein_id": "ENSP00000508737.1",
"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": 6180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.*1703A>G",
"hgvs_p": null,
"transcript": "ENST00000686427.1",
"protein_id": "ENSP00000510379.1",
"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": 5994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.*2493A>G",
"hgvs_p": null,
"transcript": "ENST00000687704.1",
"protein_id": "ENSP00000510454.1",
"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": 6132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.*3686A>G",
"hgvs_p": null,
"transcript": "ENST00000688124.1",
"protein_id": "ENSP00000510645.1",
"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": 6077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.*4112A>G",
"hgvs_p": null,
"transcript": "ENST00000688848.1",
"protein_id": "ENSP00000509419.1",
"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": 6091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.*635A>G",
"hgvs_p": null,
"transcript": "ENST00000688985.1",
"protein_id": "ENSP00000510477.1",
"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": 3007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.2488+5676A>G",
"hgvs_p": null,
"transcript": "ENST00000685180.1",
"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": 7297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.2302+1358A>G",
"hgvs_p": null,
"transcript": "ENST00000691345.1",
"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": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.-152A>G",
"hgvs_p": null,
"transcript": "ENST00000685459.1",
"protein_id": "ENSP00000509511.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": -4,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.-152A>G",
"hgvs_p": null,
"transcript": "ENST00000693068.1",
"protein_id": "ENSP00000509997.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 254,
"cds_start": -4,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.-152A>G",
"hgvs_p": null,
"transcript": "ENST00000688381.1",
"protein_id": "ENSP00000508847.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 235,
"cds_start": -4,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"dbsnp": "rs200488568",
"frequency_reference_population": 0.00024659414,
"hom_count_reference_population": 2,
"allele_count_reference_population": 398,
"gnomad_exomes_af": 0.000235328,
"gnomad_genomes_af": 0.000354796,
"gnomad_exomes_ac": 344,
"gnomad_genomes_ac": 54,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02074253559112549,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.274,
"revel_prediction": "Benign",
"alphamissense_score": 0.0858,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.197,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BS1_Supporting",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000380817.8",
"gene_symbol": "SBF1",
"hgnc_id": 10542,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4768A>G",
"hgvs_p": "p.Thr1590Ala"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease type 4B3,Tip-toe gait,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:1 US:7",
"phenotype_combined": "Charcot-Marie-Tooth disease type 4B3|not specified|not provided|Tip-toe gait",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}