← 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: 12-119690167-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=119690167&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 119690167,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001206999.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6170T>A",
"hgvs_p": "p.Leu2057Gln",
"transcript": "NM_001206999.2",
"protein_id": "NP_001193928.1",
"transcript_support_level": null,
"aa_start": 2057,
"aa_end": null,
"aa_length": 2069,
"cds_start": 6170,
"cds_end": null,
"cds_length": 6210,
"cdna_start": 6255,
"cdna_end": null,
"cdna_length": 8736,
"mane_select": "ENST00000392521.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6170T>A",
"hgvs_p": "p.Leu2057Gln",
"transcript": "ENST00000392521.7",
"protein_id": "ENSP00000376306.2",
"transcript_support_level": 1,
"aa_start": 2057,
"aa_end": null,
"aa_length": 2069,
"cds_start": 6170,
"cds_end": null,
"cds_length": 6210,
"cdna_start": 6255,
"cdna_end": null,
"cdna_length": 8736,
"mane_select": "NM_001206999.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6044T>A",
"hgvs_p": "p.Leu2015Gln",
"transcript": "ENST00000261833.11",
"protein_id": "ENSP00000261833.7",
"transcript_support_level": 1,
"aa_start": 2015,
"aa_end": null,
"aa_length": 2027,
"cds_start": 6044,
"cds_end": null,
"cds_length": 6084,
"cdna_start": 6097,
"cdna_end": null,
"cdna_length": 8578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6044T>A",
"hgvs_p": "p.Leu2015Gln",
"transcript": "NM_007174.3",
"protein_id": "NP_009105.1",
"transcript_support_level": null,
"aa_start": 2015,
"aa_end": null,
"aa_length": 2027,
"cds_start": 6044,
"cds_end": null,
"cds_length": 6084,
"cdna_start": 6129,
"cdna_end": null,
"cdna_length": 8610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4880T>A",
"hgvs_p": "p.Leu1627Gln",
"transcript": "ENST00000392520.2",
"protein_id": "ENSP00000376305.2",
"transcript_support_level": 5,
"aa_start": 1627,
"aa_end": null,
"aa_length": 1639,
"cds_start": 4880,
"cds_end": null,
"cds_length": 4920,
"cdna_start": 4882,
"cdna_end": null,
"cdna_length": 5205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4814T>A",
"hgvs_p": "p.Leu1605Gln",
"transcript": "ENST00000679249.1",
"protein_id": "ENSP00000503976.1",
"transcript_support_level": null,
"aa_start": 1605,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4814,
"cds_end": null,
"cds_length": 4854,
"cdna_start": 5142,
"cdna_end": null,
"cdna_length": 7611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4787T>A",
"hgvs_p": "p.Leu1596Gln",
"transcript": "ENST00000676849.1",
"protein_id": "ENSP00000503214.1",
"transcript_support_level": null,
"aa_start": 1596,
"aa_end": null,
"aa_length": 1608,
"cds_start": 4787,
"cds_end": null,
"cds_length": 4827,
"cdna_start": 5123,
"cdna_end": null,
"cdna_length": 7592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4787T>A",
"hgvs_p": "p.Leu1596Gln",
"transcript": "ENST00000678652.1",
"protein_id": "ENSP00000504849.1",
"transcript_support_level": null,
"aa_start": 1596,
"aa_end": null,
"aa_length": 1608,
"cds_start": 4787,
"cds_end": null,
"cds_length": 4827,
"cdna_start": 5150,
"cdna_end": null,
"cdna_length": 7619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4772T>A",
"hgvs_p": "p.Leu1591Gln",
"transcript": "ENST00000677993.1",
"protein_id": "ENSP00000503765.1",
"transcript_support_level": null,
"aa_start": 1591,
"aa_end": null,
"aa_length": 1603,
"cds_start": 4772,
"cds_end": null,
"cds_length": 4812,
"cdna_start": 5359,
"cdna_end": null,
"cdna_length": 7828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4661T>A",
"hgvs_p": "p.Leu1554Gln",
"transcript": "ENST00000678087.1",
"protein_id": "ENSP00000503863.1",
"transcript_support_level": null,
"aa_start": 1554,
"aa_end": null,
"aa_length": 1566,
"cds_start": 4661,
"cds_end": null,
"cds_length": 4701,
"cdna_start": 5215,
"cdna_end": null,
"cdna_length": 7684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4574T>A",
"hgvs_p": "p.Leu1525Gln",
"transcript": "ENST00000678677.1",
"protein_id": "ENSP00000503253.1",
"transcript_support_level": null,
"aa_start": 1525,
"aa_end": null,
"aa_length": 1537,
"cds_start": 4574,
"cds_end": null,
"cds_length": 4614,
"cdna_start": 4902,
"cdna_end": null,
"cdna_length": 7371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6215T>A",
"hgvs_p": "p.Leu2072Gln",
"transcript": "XM_011537783.2",
"protein_id": "XP_011536085.1",
"transcript_support_level": null,
"aa_start": 2072,
"aa_end": null,
"aa_length": 2084,
"cds_start": 6215,
"cds_end": null,
"cds_length": 6255,
"cdna_start": 6300,
"cdna_end": null,
"cdna_length": 8781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6212T>A",
"hgvs_p": "p.Leu2071Gln",
"transcript": "XM_011537784.2",
"protein_id": "XP_011536086.1",
"transcript_support_level": null,
"aa_start": 2071,
"aa_end": null,
"aa_length": 2083,
"cds_start": 6212,
"cds_end": null,
"cds_length": 6252,
"cdna_start": 6297,
"cdna_end": null,
"cdna_length": 8778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6170T>A",
"hgvs_p": "p.Leu2057Gln",
"transcript": "XM_011537785.2",
"protein_id": "XP_011536087.1",
"transcript_support_level": null,
"aa_start": 2057,
"aa_end": null,
"aa_length": 2069,
"cds_start": 6170,
"cds_end": null,
"cds_length": 6210,
"cdna_start": 6255,
"cdna_end": null,
"cdna_length": 8736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6167T>A",
"hgvs_p": "p.Leu2056Gln",
"transcript": "XM_017018735.2",
"protein_id": "XP_016874224.1",
"transcript_support_level": null,
"aa_start": 2056,
"aa_end": null,
"aa_length": 2068,
"cds_start": 6167,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 6252,
"cdna_end": null,
"cdna_length": 8733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6167T>A",
"hgvs_p": "p.Leu2056Gln",
"transcript": "XM_017018736.2",
"protein_id": "XP_016874225.1",
"transcript_support_level": null,
"aa_start": 2056,
"aa_end": null,
"aa_length": 2068,
"cds_start": 6167,
"cds_end": null,
"cds_length": 6207,
"cdna_start": 6252,
"cdna_end": null,
"cdna_length": 8733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6125T>A",
"hgvs_p": "p.Leu2042Gln",
"transcript": "XM_006719206.3",
"protein_id": "XP_006719269.1",
"transcript_support_level": null,
"aa_start": 2042,
"aa_end": null,
"aa_length": 2054,
"cds_start": 6125,
"cds_end": null,
"cds_length": 6165,
"cdna_start": 6210,
"cdna_end": null,
"cdna_length": 8691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6122T>A",
"hgvs_p": "p.Leu2041Gln",
"transcript": "XM_017018737.2",
"protein_id": "XP_016874226.1",
"transcript_support_level": null,
"aa_start": 2041,
"aa_end": null,
"aa_length": 2053,
"cds_start": 6122,
"cds_end": null,
"cds_length": 6162,
"cdna_start": 6207,
"cdna_end": null,
"cdna_length": 8688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.6041T>A",
"hgvs_p": "p.Leu2014Gln",
"transcript": "XM_047428134.1",
"protein_id": "XP_047284090.1",
"transcript_support_level": null,
"aa_start": 2014,
"aa_end": null,
"aa_length": 2026,
"cds_start": 6041,
"cds_end": null,
"cds_length": 6081,
"cdna_start": 6126,
"cdna_end": null,
"cdna_length": 8607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.5999T>A",
"hgvs_p": "p.Leu2000Gln",
"transcript": "XM_011537787.2",
"protein_id": "XP_011536089.1",
"transcript_support_level": null,
"aa_start": 2000,
"aa_end": null,
"aa_length": 2012,
"cds_start": 5999,
"cds_end": null,
"cds_length": 6039,
"cdna_start": 6084,
"cdna_end": null,
"cdna_length": 8565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.5996T>A",
"hgvs_p": "p.Leu1999Gln",
"transcript": "XM_011537788.2",
"protein_id": "XP_011536090.1",
"transcript_support_level": null,
"aa_start": 1999,
"aa_end": null,
"aa_length": 2011,
"cds_start": 5996,
"cds_end": null,
"cds_length": 6036,
"cdna_start": 6081,
"cdna_end": null,
"cdna_length": 8562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4877T>A",
"hgvs_p": "p.Leu1626Gln",
"transcript": "XM_011537789.2",
"protein_id": "XP_011536091.1",
"transcript_support_level": null,
"aa_start": 1626,
"aa_end": null,
"aa_length": 1638,
"cds_start": 4877,
"cds_end": null,
"cds_length": 4917,
"cdna_start": 5446,
"cdna_end": null,
"cdna_length": 7927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4877T>A",
"hgvs_p": "p.Leu1626Gln",
"transcript": "XM_011537790.2",
"protein_id": "XP_011536092.1",
"transcript_support_level": null,
"aa_start": 1626,
"aa_end": null,
"aa_length": 1638,
"cds_start": 4877,
"cds_end": null,
"cds_length": 4917,
"cdna_start": 5001,
"cdna_end": null,
"cdna_length": 7482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.4817T>A",
"hgvs_p": "p.Leu1606Gln",
"transcript": "XM_011537791.3",
"protein_id": "XP_011536093.1",
"transcript_support_level": null,
"aa_start": 1606,
"aa_end": null,
"aa_length": 1618,
"cds_start": 4817,
"cds_end": null,
"cds_length": 4857,
"cdna_start": 5471,
"cdna_end": null,
"cdna_length": 7952,
"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": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "n.4897T>A",
"hgvs_p": null,
"transcript": "ENST00000537607.5",
"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": 4958,
"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": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "n.8330T>A",
"hgvs_p": null,
"transcript": "ENST00000545913.6",
"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": 10799,
"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": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "n.3496T>A",
"hgvs_p": null,
"transcript": "ENST00000676693.1",
"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": 5965,
"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": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "n.5530T>A",
"hgvs_p": null,
"transcript": "ENST00000676833.1",
"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": 5546,
"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": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "n.*5276T>A",
"hgvs_p": null,
"transcript": "ENST00000677438.1",
"protein_id": "ENSP00000504095.1",
"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": 8520,
"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": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "n.3367T>A",
"hgvs_p": null,
"transcript": "ENST00000677738.1",
"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": 5836,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "n.1480T>A",
"hgvs_p": null,
"transcript": "ENST00000677742.1",
"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": 3949,
"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": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "n.*5390T>A",
"hgvs_p": null,
"transcript": "ENST00000677812.1",
"protein_id": "ENSP00000504400.1",
"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": 8320,
"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": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "n.*5273T>A",
"hgvs_p": null,
"transcript": "ENST00000677849.1",
"protein_id": "ENSP00000503820.1",
"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": 8093,
"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": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "n.7627T>A",
"hgvs_p": null,
"transcript": "ENST00000678236.1",
"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": 10096,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "n.899T>A",
"hgvs_p": null,
"transcript": "ENST00000678708.1",
"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": 3368,
"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": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "n.*4177T>A",
"hgvs_p": null,
"transcript": "ENST00000679120.1",
"protein_id": "ENSP00000502891.1",
"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": 7591,
"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": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "n.3663T>A",
"hgvs_p": null,
"transcript": "ENST00000679285.1",
"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": 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": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "n.*5276T>A",
"hgvs_p": null,
"transcript": "ENST00000677438.1",
"protein_id": "ENSP00000504095.1",
"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": 8520,
"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": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "n.*5390T>A",
"hgvs_p": null,
"transcript": "ENST00000677812.1",
"protein_id": "ENSP00000504400.1",
"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": 8320,
"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": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "n.*5273T>A",
"hgvs_p": null,
"transcript": "ENST00000677849.1",
"protein_id": "ENSP00000503820.1",
"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": 8093,
"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": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "n.*4177T>A",
"hgvs_p": null,
"transcript": "ENST00000679120.1",
"protein_id": "ENSP00000502891.1",
"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": 7591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "c.1227-3133T>A",
"hgvs_p": null,
"transcript": "ENST00000678494.1",
"protein_id": "ENSP00000503854.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 507,
"cds_start": -4,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "n.*234T>A",
"hgvs_p": null,
"transcript": "ENST00000469414.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"hgvs_c": "n.*215T>A",
"hgvs_p": null,
"transcript": "ENST00000544872.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CIT",
"gene_hgnc_id": 1985,
"dbsnp": "rs749796555",
"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": 0.6726769804954529,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.307,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3964,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.323,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001206999.2",
"gene_symbol": "CIT",
"hgnc_id": 1985,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6170T>A",
"hgvs_p": "p.Leu2057Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}