← 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: 21-45505220-CCCTCCCGGC-CCCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=45505220&ref=CCCTCCCGGC&alt=CCCT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "COL18A1",
"hgnc_id": 2195,
"hgvs_c": "c.4207_4211delGGCCC",
"hgvs_p": "p.Gly1403fs",
"inheritance_mode": "AR,AD",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_130444.3",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SLC19A1",
"hgnc_id": 10937,
"hgvs_c": "c.1294-6616_1294-6612delCCGGG",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000567670.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_score": 10,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "21",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1339,
"aa_ref": "GP",
"aa_start": 988,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5408,
"cdna_start": 3028,
"cds_end": null,
"cds_length": 4020,
"cds_start": 2962,
"consequences": [
"frameshift_variant"
],
"exon_count": 42,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_001379500.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.2962_2966delGGCCC",
"hgvs_p": "p.Gly988fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000651438.1",
"protein_coding": true,
"protein_id": "NP_001366429.1",
"strand": true,
"transcript": "NM_001379500.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1339,
"aa_ref": "GP",
"aa_start": 988,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5408,
"cdna_start": 3028,
"cds_end": null,
"cds_length": 4020,
"cds_start": 2962,
"consequences": [
"frameshift_variant"
],
"exon_count": 42,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000651438.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.2962_2966delGGCCC",
"hgvs_p": "p.Gly988fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001379500.1",
"protein_coding": true,
"protein_id": "ENSP00000498485.1",
"strand": true,
"transcript": "ENST00000651438.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1519,
"aa_ref": "GP",
"aa_start": 1168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5891,
"cdna_start": 3511,
"cds_end": null,
"cds_length": 4560,
"cds_start": 3502,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000355480.10",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3502_3506delGGCCC",
"hgvs_p": "p.Gly1168fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347665.5",
"strand": true,
"transcript": "ENST00000355480.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 545,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2029,
"cdna_start": null,
"cds_end": null,
"cds_length": 1638,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000567670.5",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1294-6616_1294-6612delCCGGG",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457278.1",
"strand": false,
"transcript": "ENST00000567670.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 268,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3572,
"cdna_start": null,
"cds_end": null,
"cds_length": 807,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000417954.5",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.496-6616_496-6612delCCGGG",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393988.1",
"strand": false,
"transcript": "ENST00000417954.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1754,
"aa_ref": "GP",
"aa_start": 1403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6596,
"cdna_start": 4216,
"cds_end": null,
"cds_length": 5265,
"cds_start": 4207,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_130444.3",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.4207_4211delGGCCC",
"hgvs_p": "p.Gly1403fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_569711.2",
"strand": true,
"transcript": "NM_130444.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1754,
"aa_ref": "GP",
"aa_start": 1403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6586,
"cdna_start": 4207,
"cds_end": null,
"cds_length": 5265,
"cds_start": 4207,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000359759.8",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.4207_4211delGGCCC",
"hgvs_p": "p.Gly1403fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352798.4",
"strand": true,
"transcript": "ENST00000359759.8",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1519,
"aa_ref": "GP",
"aa_start": 1168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5891,
"cdna_start": 3511,
"cds_end": null,
"cds_length": 4560,
"cds_start": 3502,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_030582.4",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3502_3506delGGCCC",
"hgvs_p": "p.Gly1168fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_085059.2",
"strand": true,
"transcript": "NM_030582.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1483,
"aa_ref": "GP",
"aa_start": 1132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5863,
"cdna_start": 3483,
"cds_end": null,
"cds_length": 4452,
"cds_start": 3394,
"consequences": [
"frameshift_variant"
],
"exon_count": 43,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000859062.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3394_3398delGGCCC",
"hgvs_p": "p.Gly1132fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529121.1",
"strand": true,
"transcript": "ENST00000859062.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1421,
"aa_ref": "GP",
"aa_start": 967,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4497,
"cdna_start": 2960,
"cds_end": null,
"cds_length": 4266,
"cds_start": 2899,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000930602.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.2899_2903delGGCCC",
"hgvs_p": "p.Gly967fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600661.1",
"strand": true,
"transcript": "ENST00000930602.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1362,
"aa_ref": "GP",
"aa_start": 1011,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4317,
"cdna_start": 3092,
"cds_end": null,
"cds_length": 4089,
"cds_start": 3031,
"consequences": [
"frameshift_variant"
],
"exon_count": 43,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000859069.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3031_3035delGGCCC",
"hgvs_p": "p.Gly1011fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529128.1",
"strand": true,
"transcript": "ENST00000859069.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1359,
"aa_ref": "GP",
"aa_start": 1008,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4313,
"cdna_start": 3088,
"cds_end": null,
"cds_length": 4080,
"cds_start": 3022,
"consequences": [
"frameshift_variant"
],
"exon_count": 42,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000859068.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3022_3026delGGCCC",
"hgvs_p": "p.Gly1008fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529127.1",
"strand": true,
"transcript": "ENST00000859068.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1357,
"aa_ref": "GP",
"aa_start": 1006,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5482,
"cdna_start": 3102,
"cds_end": null,
"cds_length": 4074,
"cds_start": 3016,
"consequences": [
"frameshift_variant"
],
"exon_count": 42,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000859063.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3016_3020delGGCCC",
"hgvs_p": "p.Gly1006fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529122.1",
"strand": true,
"transcript": "ENST00000859063.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1350,
"aa_ref": "GP",
"aa_start": 988,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5475,
"cdna_start": 3063,
"cds_end": null,
"cds_length": 4053,
"cds_start": 2962,
"consequences": [
"frameshift_variant"
],
"exon_count": 43,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000859060.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.2962_2966delGGCCC",
"hgvs_p": "p.Gly988fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529119.1",
"strand": true,
"transcript": "ENST00000859060.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1336,
"aa_ref": "GP",
"aa_start": 985,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5393,
"cdna_start": 3014,
"cds_end": null,
"cds_length": 4011,
"cds_start": 2953,
"consequences": [
"frameshift_variant"
],
"exon_count": 42,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000970099.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.2953_2957delGGCCC",
"hgvs_p": "p.Gly985fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640158.1",
"strand": true,
"transcript": "ENST00000970099.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1331,
"aa_ref": "GP",
"aa_start": 979,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4248,
"cdna_start": 3024,
"cds_end": null,
"cds_length": 3996,
"cds_start": 2935,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000859066.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.2935_2939delGGCCC",
"hgvs_p": "p.Gly979fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529125.1",
"strand": true,
"transcript": "ENST00000859066.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1330,
"aa_ref": "GP",
"aa_start": 978,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5399,
"cdna_start": 3017,
"cds_end": null,
"cds_length": 3993,
"cds_start": 2932,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000930597.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.2932_2936delGGCCC",
"hgvs_p": "p.Gly978fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600656.1",
"strand": true,
"transcript": "ENST00000930597.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1330,
"aa_ref": "GP",
"aa_start": 979,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5406,
"cdna_start": 3027,
"cds_end": null,
"cds_length": 3993,
"cds_start": 2935,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000970097.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.2935_2939delGGCCC",
"hgvs_p": "p.Gly979fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640156.1",
"strand": true,
"transcript": "ENST00000970097.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1329,
"aa_ref": "GP",
"aa_start": 978,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4241,
"cdna_start": 2998,
"cds_end": null,
"cds_length": 3990,
"cds_start": 2932,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000859067.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.2932_2936delGGCCC",
"hgvs_p": "p.Gly978fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529126.1",
"strand": true,
"transcript": "ENST00000859067.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1327,
"aa_ref": "GP",
"aa_start": 976,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5414,
"cdna_start": 3034,
"cds_end": null,
"cds_length": 3984,
"cds_start": 2926,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000859059.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.2926_2930delGGCCC",
"hgvs_p": "p.Gly976fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529118.1",
"strand": true,
"transcript": "ENST00000859059.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1321,
"aa_ref": "GP",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4202,
"cdna_start": 2974,
"cds_end": null,
"cds_length": 3966,
"cds_start": 2908,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000930601.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.2908_2912delGGCCC",
"hgvs_p": "p.Gly970fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600660.1",
"strand": true,
"transcript": "ENST00000930601.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1318,
"aa_ref": "GP",
"aa_start": 967,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5373,
"cdna_start": 2993,
"cds_end": null,
"cds_length": 3957,
"cds_start": 2899,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000930595.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.2899_2903delGGCCC",
"hgvs_p": "p.Gly967fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600654.1",
"strand": true,
"transcript": "ENST00000930595.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1310,
"aa_ref": "GP",
"aa_start": 959,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5318,
"cdna_start": 2941,
"cds_end": null,
"cds_length": 3933,
"cds_start": 2875,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000859064.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.2875_2879delGGCCC",
"hgvs_p": "p.Gly959fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529123.1",
"strand": true,
"transcript": "ENST00000859064.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1297,
"aa_ref": "GP",
"aa_start": 946,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5303,
"cdna_start": 2922,
"cds_end": null,
"cds_length": 3894,
"cds_start": 2836,
"consequences": [
"frameshift_variant"
],
"exon_count": 39,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000970098.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.2836_2840delGGCCC",
"hgvs_p": "p.Gly946fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640157.1",
"strand": true,
"transcript": "ENST00000970098.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1293,
"aa_ref": "GP",
"aa_start": 941,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5289,
"cdna_start": 2906,
"cds_end": null,
"cds_length": 3882,
"cds_start": 2821,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000930596.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.2821_2825delGGCCC",
"hgvs_p": "p.Gly941fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600655.1",
"strand": true,
"transcript": "ENST00000930596.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1292,
"aa_ref": "GP",
"aa_start": 941,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5296,
"cdna_start": 2915,
"cds_end": null,
"cds_length": 3879,
"cds_start": 2821,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000859061.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.2821_2825delGGCCC",
"hgvs_p": "p.Gly941fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529120.1",
"strand": true,
"transcript": "ENST00000859061.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1286,
"aa_ref": "GP",
"aa_start": 935,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4116,
"cdna_start": 2869,
"cds_end": null,
"cds_length": 3861,
"cds_start": 2803,
"consequences": [
"frameshift_variant"
],
"exon_count": 41,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000859065.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.2803_2807delGGCCC",
"hgvs_p": "p.Gly935fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529124.1",
"strand": true,
"transcript": "ENST00000859065.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1274,
"aa_ref": "GP",
"aa_start": 923,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5242,
"cdna_start": 2861,
"cds_end": null,
"cds_length": 3825,
"cds_start": 2767,
"consequences": [
"frameshift_variant"
],
"exon_count": 40,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000930594.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.2767_2771delGGCCC",
"hgvs_p": "p.Gly923fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600653.1",
"strand": true,
"transcript": "ENST00000930594.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1268,
"aa_ref": "GP",
"aa_start": 917,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4062,
"cdna_start": 2819,
"cds_end": null,
"cds_length": 3807,
"cds_start": 2749,
"consequences": [
"frameshift_variant"
],
"exon_count": 40,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000930600.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.2749_2753delGGCCC",
"hgvs_p": "p.Gly917fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600659.1",
"strand": true,
"transcript": "ENST00000930600.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1266,
"aa_ref": "GP",
"aa_start": 915,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5201,
"cdna_start": 2821,
"cds_end": null,
"cds_length": 3801,
"cds_start": 2743,
"consequences": [
"frameshift_variant"
],
"exon_count": 38,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000930598.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.2743_2747delGGCCC",
"hgvs_p": "p.Gly915fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600657.1",
"strand": true,
"transcript": "ENST00000930598.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1239,
"aa_ref": "GP",
"aa_start": 888,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5104,
"cdna_start": 2727,
"cds_end": null,
"cds_length": 3720,
"cds_start": 2662,
"consequences": [
"frameshift_variant"
],
"exon_count": 40,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000930599.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.2662_2666delGGCCC",
"hgvs_p": "p.Gly888fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600658.1",
"strand": true,
"transcript": "ENST00000930599.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 687,
"aa_ref": "GP",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3386,
"cdna_start": 1003,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1003,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000342220.9",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.1003_1007delGGCCC",
"hgvs_p": "p.Gly335fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339118.5",
"strand": true,
"transcript": "ENST00000342220.9",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 961,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3111,
"cdna_start": null,
"cds_end": null,
"cds_length": 2886,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970100.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.2089-2340_2089-2336delGGCCC",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640159.1",
"strand": true,
"transcript": "ENST00000970100.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 466,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2187,
"cdna_start": null,
"cds_end": null,
"cds_length": 1401,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047440957.1",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1360-2259_1360-2255delCCGGG",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296913.1",
"strand": false,
"transcript": "XM_047440957.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 444,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1868,
"cdna_start": null,
"cds_end": null,
"cds_length": 1335,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047440963.1",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1294-2259_1294-2255delCCGGG",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296919.1",
"strand": false,
"transcript": "XM_047440963.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 444,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1855,
"cdna_start": null,
"cds_end": null,
"cds_length": 1335,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047440964.1",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1294-2259_1294-2255delCCGGG",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296920.1",
"strand": false,
"transcript": "XM_047440964.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 278,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 839,
"cdna_start": null,
"cds_end": null,
"cds_length": 837,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000423214.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.-136_-132delCCCGG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415692.1",
"strand": true,
"transcript": "ENST00000423214.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "frameshift_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.728,
"pos": 45505222,
"ref": "CTCCCGG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_130444.3"
}
]
}