← 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: 2-108794662-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=108794662&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 108794662,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001351544.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "NM_144978.3",
"protein_id": "NP_659415.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 665,
"cds_start": 517,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295124.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144978.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "ENST00000295124.9",
"protein_id": "ENSP00000295124.4",
"transcript_support_level": 2,
"aa_start": 173,
"aa_end": null,
"aa_length": 665,
"cds_start": 517,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144978.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295124.9"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "ENST00000412964.6",
"protein_id": "ENSP00000411800.2",
"transcript_support_level": 1,
"aa_start": 173,
"aa_end": null,
"aa_length": 577,
"cds_start": 517,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412964.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "ENST00000925777.1",
"protein_id": "ENSP00000595836.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 693,
"cds_start": 517,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925777.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Leu179Phe",
"transcript": "NM_001351544.2",
"protein_id": "NP_001338473.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 671,
"cds_start": 535,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351544.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Leu179Phe",
"transcript": "ENST00000870673.1",
"protein_id": "ENSP00000540732.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 671,
"cds_start": 535,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870673.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Leu168Phe",
"transcript": "NM_001351545.1",
"protein_id": "NP_001338474.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 660,
"cds_start": 502,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351545.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Leu179Phe",
"transcript": "ENST00000925779.1",
"protein_id": "ENSP00000595838.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 632,
"cds_start": 535,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925779.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.415C>T",
"hgvs_p": "p.Leu139Phe",
"transcript": "ENST00000870675.1",
"protein_id": "ENSP00000540734.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 631,
"cds_start": 415,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870675.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Leu179Phe",
"transcript": "ENST00000925783.1",
"protein_id": "ENSP00000595842.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 631,
"cds_start": 535,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925783.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "ENST00000870674.1",
"protein_id": "ENSP00000540733.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 626,
"cds_start": 517,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870674.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "ENST00000925782.1",
"protein_id": "ENSP00000595841.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 625,
"cds_start": 517,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925782.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "ENST00000958376.1",
"protein_id": "ENSP00000628435.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 625,
"cds_start": 517,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958376.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Leu131Phe",
"transcript": "NM_001351548.1",
"protein_id": "NP_001338477.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 623,
"cds_start": 391,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351548.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "ENST00000925780.1",
"protein_id": "ENSP00000595839.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 612,
"cds_start": 517,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925780.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Leu179Phe",
"transcript": "ENST00000925785.1",
"protein_id": "ENSP00000595844.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 612,
"cds_start": 535,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925785.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "ENST00000925781.1",
"protein_id": "ENSP00000595840.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 610,
"cds_start": 517,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925781.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "NM_001351549.2",
"protein_id": "NP_001338478.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 606,
"cds_start": 517,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351549.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "ENST00000870672.1",
"protein_id": "ENSP00000540731.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 606,
"cds_start": 517,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870672.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "NM_001351551.2",
"protein_id": "NP_001338480.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 605,
"cds_start": 517,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351551.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Leu179Phe",
"transcript": "NM_001351553.2",
"protein_id": "NP_001338482.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 583,
"cds_start": 535,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351553.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Leu179Phe",
"transcript": "NM_001351554.2",
"protein_id": "NP_001338483.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 582,
"cds_start": 535,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351554.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "NM_001303105.2",
"protein_id": "NP_001290034.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 577,
"cds_start": 517,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303105.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "NM_001351555.2",
"protein_id": "NP_001338484.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 576,
"cds_start": 517,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351555.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Leu168Phe",
"transcript": "NM_001351557.1",
"protein_id": "NP_001338486.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 545,
"cds_start": 502,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351557.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "ENST00000925784.1",
"protein_id": "ENSP00000595843.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 541,
"cds_start": 517,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925784.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "ENST00000925778.1",
"protein_id": "ENSP00000595837.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 482,
"cds_start": 517,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925778.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "NM_001351559.2",
"protein_id": "NP_001338488.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 434,
"cds_start": 517,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351559.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Leu168Phe",
"transcript": "NM_001351561.1",
"protein_id": "NP_001338490.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 429,
"cds_start": 502,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351561.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Leu70Phe",
"transcript": "ENST00000456512.1",
"protein_id": "ENSP00000392385.1",
"transcript_support_level": 5,
"aa_start": 70,
"aa_end": null,
"aa_length": 350,
"cds_start": 208,
"cds_end": null,
"cds_length": 1054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456512.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Leu179Phe",
"transcript": "XM_011510757.3",
"protein_id": "XP_011509059.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 670,
"cds_start": 535,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510757.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "XM_017003492.2",
"protein_id": "XP_016858981.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 664,
"cds_start": 517,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003492.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Leu168Phe",
"transcript": "XM_047443540.1",
"protein_id": "XP_047299496.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 659,
"cds_start": 502,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443540.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Leu179Phe",
"transcript": "XM_011510760.3",
"protein_id": "XP_011509062.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 632,
"cds_start": 535,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510760.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Leu179Phe",
"transcript": "XM_047443541.1",
"protein_id": "XP_047299497.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 631,
"cds_start": 535,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443541.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "XM_047443542.1",
"protein_id": "XP_047299498.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 626,
"cds_start": 517,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443542.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "XM_047443543.1",
"protein_id": "XP_047299499.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 625,
"cds_start": 517,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443543.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Leu168Phe",
"transcript": "XM_017003493.3",
"protein_id": "XP_016858982.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 621,
"cds_start": 502,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003493.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Leu168Phe",
"transcript": "XM_047443544.1",
"protein_id": "XP_047299500.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 620,
"cds_start": 502,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443544.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Leu179Phe",
"transcript": "XM_011510761.3",
"protein_id": "XP_011509063.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 612,
"cds_start": 535,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510761.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Leu179Phe",
"transcript": "XM_047443545.1",
"protein_id": "XP_047299501.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 611,
"cds_start": 535,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443545.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Leu168Phe",
"transcript": "XM_047443547.1",
"protein_id": "XP_047299503.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 601,
"cds_start": 502,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443547.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Leu179Phe",
"transcript": "XM_047443548.1",
"protein_id": "XP_047299504.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 573,
"cds_start": 535,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443548.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Leu168Phe",
"transcript": "XM_047443549.1",
"protein_id": "XP_047299505.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 572,
"cds_start": 502,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443549.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Leu168Phe",
"transcript": "XM_047443550.1",
"protein_id": "XP_047299506.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 571,
"cds_start": 502,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443550.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "XM_047443551.1",
"protein_id": "XP_047299507.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 566,
"cds_start": 517,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443551.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Leu179Phe",
"transcript": "XM_047443552.1",
"protein_id": "XP_047299508.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 544,
"cds_start": 535,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443552.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "XM_047443553.1",
"protein_id": "XP_047299509.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 538,
"cds_start": 517,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443553.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "XM_047443554.1",
"protein_id": "XP_047299510.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 537,
"cds_start": 517,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443554.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Leu168Phe",
"transcript": "XM_047443555.1",
"protein_id": "XP_047299511.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 533,
"cds_start": 502,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443555.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Leu179Phe",
"transcript": "XM_047443556.1",
"protein_id": "XP_047299512.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 529,
"cds_start": 535,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443556.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Leu179Phe",
"transcript": "XM_017003498.2",
"protein_id": "XP_016858987.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 524,
"cds_start": 535,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003498.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "XM_047443558.1",
"protein_id": "XP_047299514.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 518,
"cds_start": 517,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443558.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Leu173Phe",
"transcript": "XM_047443559.1",
"protein_id": "XP_047299515.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 517,
"cds_start": 517,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443559.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Leu179Phe",
"transcript": "XM_047443560.1",
"protein_id": "XP_047299516.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 440,
"cds_start": 535,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443560.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.-432C>T",
"hgvs_p": null,
"transcript": "NM_001303106.2",
"protein_id": "NP_001290035.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303106.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.-432C>T",
"hgvs_p": null,
"transcript": "NM_001351565.2",
"protein_id": "NP_001338494.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351565.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "c.-432C>T",
"hgvs_p": null,
"transcript": "XM_047443561.1",
"protein_id": "XP_047299517.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443561.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "RANBP2",
"gene_hgnc_id": 9848,
"hgvs_c": "c.8370+21616C>T",
"hgvs_p": null,
"transcript": "XM_047445367.1",
"protein_id": "XP_047301323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2807,
"cds_start": null,
"cds_end": null,
"cds_length": 8424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445367.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "n.*322C>T",
"hgvs_p": null,
"transcript": "ENST00000409529.6",
"protein_id": "ENSP00000386418.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000409529.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "n.*316C>T",
"hgvs_p": null,
"transcript": "ENST00000447782.1",
"protein_id": "ENSP00000407328.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000447782.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "n.419C>T",
"hgvs_p": null,
"transcript": "ENST00000470608.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000470608.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "n.689C>T",
"hgvs_p": null,
"transcript": "NR_130121.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_130121.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "n.458C>T",
"hgvs_p": null,
"transcript": "NR_147236.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_147236.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "n.587C>T",
"hgvs_p": null,
"transcript": "NR_147237.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_147237.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "n.569C>T",
"hgvs_p": null,
"transcript": "NR_147238.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_147238.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "n.587C>T",
"hgvs_p": null,
"transcript": "XR_007069664.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007069664.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "n.590C>T",
"hgvs_p": null,
"transcript": "XR_007069665.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007069665.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "n.*322C>T",
"hgvs_p": null,
"transcript": "ENST00000409529.6",
"protein_id": "ENSP00000386418.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000409529.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"hgvs_c": "n.*316C>T",
"hgvs_p": null,
"transcript": "ENST00000447782.1",
"protein_id": "ENSP00000407328.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000447782.1"
}
],
"gene_symbol": "CCDC138",
"gene_hgnc_id": 26531,
"dbsnp": "rs148667954",
"frequency_reference_population": 0.00022861207,
"hom_count_reference_population": 0,
"allele_count_reference_population": 369,
"gnomad_exomes_af": 0.000240116,
"gnomad_genomes_af": 0.000118194,
"gnomad_exomes_ac": 351,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20735996961593628,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.285,
"revel_prediction": "Benign",
"alphamissense_score": 0.1135,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.403,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001351544.2",
"gene_symbol": "CCDC138",
"hgnc_id": 26531,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Leu179Phe"
},
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "XM_047445367.1",
"gene_symbol": "RANBP2",
"hgnc_id": 9848,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.8370+21616C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}