← 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: 1-93251417-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=93251417&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 93251417,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000690025.1",
"consequences": [
{
"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": 29,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3199-3054G>T",
"hgvs_p": null,
"transcript": "NM_001378204.1",
"protein_id": "NP_001365133.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1455,
"cds_start": -4,
"cds_end": null,
"cds_length": 4368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4752,
"mane_select": "ENST00000690025.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3199-3054G>T",
"hgvs_p": null,
"transcript": "ENST00000690025.1",
"protein_id": "ENSP00000510597.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1455,
"cds_start": -4,
"cds_end": null,
"cds_length": 4368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4752,
"mane_select": "NM_001378204.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3199-3054G>T",
"hgvs_p": null,
"transcript": "ENST00000401026.7",
"protein_id": "ENSP00000383808.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1299,
"cds_start": -4,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3196-3054G>T",
"hgvs_p": null,
"transcript": "NM_001306076.1",
"protein_id": "NP_001293005.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1454,
"cds_start": -4,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3196-3054G>T",
"hgvs_p": null,
"transcript": "ENST00000343253.11",
"protein_id": "ENSP00000343377.7",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1454,
"cds_start": -4,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3196-3054G>T",
"hgvs_p": null,
"transcript": "ENST00000370276.6",
"protein_id": "ENSP00000359299.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1454,
"cds_start": -4,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3199-3054G>T",
"hgvs_p": null,
"transcript": "NM_206886.4",
"protein_id": "NP_996769.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1299,
"cds_start": -4,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "n.*99-3054G>T",
"hgvs_p": null,
"transcript": "ENST00000688770.1",
"protein_id": "ENSP00000510046.1",
"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": 1445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "n.*2783-3054G>T",
"hgvs_p": null,
"transcript": "ENST00000690592.1",
"protein_id": "ENSP00000508593.1",
"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": 6426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "n.*2237-3054G>T",
"hgvs_p": null,
"transcript": "ENST00000692873.1",
"protein_id": "ENSP00000509021.1",
"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": 3955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3199-3054G>T",
"hgvs_p": null,
"transcript": "XM_017001154.3",
"protein_id": "XP_016856643.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1497,
"cds_start": -4,
"cds_end": null,
"cds_length": 4494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3199-3054G>T",
"hgvs_p": null,
"transcript": "XM_017001156.3",
"protein_id": "XP_016856645.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1497,
"cds_start": -4,
"cds_end": null,
"cds_length": 4494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3199-3054G>T",
"hgvs_p": null,
"transcript": "XM_017001162.3",
"protein_id": "XP_016856651.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1497,
"cds_start": -4,
"cds_end": null,
"cds_length": 4494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3199-3054G>T",
"hgvs_p": null,
"transcript": "XM_017001164.3",
"protein_id": "XP_016856653.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1497,
"cds_start": -4,
"cds_end": null,
"cds_length": 4494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3196-3054G>T",
"hgvs_p": null,
"transcript": "XM_017001155.3",
"protein_id": "XP_016856644.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1496,
"cds_start": -4,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3196-3054G>T",
"hgvs_p": null,
"transcript": "XM_047419444.1",
"protein_id": "XP_047275400.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1496,
"cds_start": -4,
"cds_end": null,
"cds_length": 4491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3151-3054G>T",
"hgvs_p": null,
"transcript": "XM_017001157.3",
"protein_id": "XP_016856646.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1481,
"cds_start": -4,
"cds_end": null,
"cds_length": 4446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3151-3054G>T",
"hgvs_p": null,
"transcript": "XM_047419459.1",
"protein_id": "XP_047275415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1481,
"cds_start": -4,
"cds_end": null,
"cds_length": 4446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3148-3054G>T",
"hgvs_p": null,
"transcript": "XM_047419449.1",
"protein_id": "XP_047275405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1480,
"cds_start": -4,
"cds_end": null,
"cds_length": 4443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3148-3054G>T",
"hgvs_p": null,
"transcript": "XM_047419468.1",
"protein_id": "XP_047275424.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1480,
"cds_start": -4,
"cds_end": null,
"cds_length": 4443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3199-3054G>T",
"hgvs_p": null,
"transcript": "XM_011541361.4",
"protein_id": "XP_011539663.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1455,
"cds_start": -4,
"cds_end": null,
"cds_length": 4368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3196-3054G>T",
"hgvs_p": null,
"transcript": "XM_047419483.1",
"protein_id": "XP_047275439.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1454,
"cds_start": -4,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3067-3054G>T",
"hgvs_p": null,
"transcript": "XM_017001159.3",
"protein_id": "XP_016856648.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1453,
"cds_start": -4,
"cds_end": null,
"cds_length": 4362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3067-3054G>T",
"hgvs_p": null,
"transcript": "XM_047419488.1",
"protein_id": "XP_047275444.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1453,
"cds_start": -4,
"cds_end": null,
"cds_length": 4362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3064-3054G>T",
"hgvs_p": null,
"transcript": "XM_047419476.1",
"protein_id": "XP_047275432.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1452,
"cds_start": -4,
"cds_end": null,
"cds_length": 4359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3064-3054G>T",
"hgvs_p": null,
"transcript": "XM_047419490.1",
"protein_id": "XP_047275446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1452,
"cds_start": -4,
"cds_end": null,
"cds_length": 4359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3198+4463G>T",
"hgvs_p": null,
"transcript": "XM_017001160.3",
"protein_id": "XP_016856649.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1449,
"cds_start": -4,
"cds_end": null,
"cds_length": 4350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3195+4463G>T",
"hgvs_p": null,
"transcript": "XM_047419482.1",
"protein_id": "XP_047275438.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1448,
"cds_start": -4,
"cds_end": null,
"cds_length": 4347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3148-3054G>T",
"hgvs_p": null,
"transcript": "XM_047419492.1",
"protein_id": "XP_047275448.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1438,
"cds_start": -4,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3019-3054G>T",
"hgvs_p": null,
"transcript": "XM_047419493.1",
"protein_id": "XP_047275449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1437,
"cds_start": -4,
"cds_end": null,
"cds_length": 4314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.2932-3054G>T",
"hgvs_p": null,
"transcript": "XM_047419508.1",
"protein_id": "XP_047275464.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1408,
"cds_start": -4,
"cds_end": null,
"cds_length": 4227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3198+4463G>T",
"hgvs_p": null,
"transcript": "XM_017001161.3",
"protein_id": "XP_016856650.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1407,
"cds_start": -4,
"cds_end": null,
"cds_length": 4224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.2929-3054G>T",
"hgvs_p": null,
"transcript": "XM_047419512.1",
"protein_id": "XP_047275468.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1407,
"cds_start": -4,
"cds_end": null,
"cds_length": 4224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.2896-3054G>T",
"hgvs_p": null,
"transcript": "XM_017001167.3",
"protein_id": "XP_016856656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1396,
"cds_start": -4,
"cds_end": null,
"cds_length": 4191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.2800-3054G>T",
"hgvs_p": null,
"transcript": "XM_047419525.1",
"protein_id": "XP_047275481.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1364,
"cds_start": -4,
"cds_end": null,
"cds_length": 4095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.2752-3054G>T",
"hgvs_p": null,
"transcript": "XM_047419527.1",
"protein_id": "XP_047275483.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1348,
"cds_start": -4,
"cds_end": null,
"cds_length": 4047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3199-3054G>T",
"hgvs_p": null,
"transcript": "XM_047419510.1",
"protein_id": "XP_047275466.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1299,
"cds_start": -4,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3196-3054G>T",
"hgvs_p": null,
"transcript": "XM_047419507.1",
"protein_id": "XP_047275463.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1298,
"cds_start": -4,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3196-3054G>T",
"hgvs_p": null,
"transcript": "XM_047419513.1",
"protein_id": "XP_047275469.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1298,
"cds_start": -4,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3064-3054G>T",
"hgvs_p": null,
"transcript": "XM_047419514.1",
"protein_id": "XP_047275470.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1254,
"cds_start": -4,
"cds_end": null,
"cds_length": 3765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3198+4463G>T",
"hgvs_p": null,
"transcript": "XM_047419516.1",
"protein_id": "XP_047275472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1251,
"cds_start": -4,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3198+4463G>T",
"hgvs_p": null,
"transcript": "XM_047419526.1",
"protein_id": "XP_047275482.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1251,
"cds_start": -4,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.3150+4463G>T",
"hgvs_p": null,
"transcript": "XM_047419520.1",
"protein_id": "XP_047275476.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1248,
"cds_start": -4,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.2236-3054G>T",
"hgvs_p": null,
"transcript": "XM_047419528.1",
"protein_id": "XP_047275484.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1176,
"cds_start": -4,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"hgvs_c": "c.1183-3054G>T",
"hgvs_p": null,
"transcript": "XM_017001171.3",
"protein_id": "XP_016856660.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": -4,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CCDC18",
"gene_hgnc_id": 30370,
"dbsnp": "rs797680",
"frequency_reference_population": 0.5046188,
"hom_count_reference_population": 22963,
"allele_count_reference_population": 76695,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.504619,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 76695,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 22963,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0399999618530273,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.04,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.71,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000690025.1",
"gene_symbol": "CCDC18",
"hgnc_id": 30370,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3199-3054G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}