← 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: 21-45510096-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=45510096&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "COL18A1",
"hgnc_id": 2195,
"hgvs_c": "c.4773A>G",
"hgvs_p": "p.Ser1591Ser",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_130444.3",
"verdict": "Benign"
},
{
"benign_score": 18,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SLC19A1",
"hgnc_id": 10937,
"hgvs_c": "c.1294-11484T>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -18,
"transcript": "ENST00000567670.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -19,
"allele_count_reference_population": 15170,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "21",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1459999978542328,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1339,
"aa_ref": "S",
"aa_start": 1176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5408,
"cdna_start": 3594,
"cds_end": null,
"cds_length": 4020,
"cds_start": 3528,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_001379500.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3528A>G",
"hgvs_p": "p.Ser1176Ser",
"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": "S",
"aa_end": null,
"aa_length": 1339,
"aa_ref": "S",
"aa_start": 1176,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5408,
"cdna_start": 3594,
"cds_end": null,
"cds_length": 4020,
"cds_start": 3528,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000651438.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3528A>G",
"hgvs_p": "p.Ser1176Ser",
"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": "S",
"aa_end": null,
"aa_length": 1519,
"aa_ref": "S",
"aa_start": 1356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5891,
"cdna_start": 4077,
"cds_end": null,
"cds_length": 4560,
"cds_start": 4068,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000355480.10",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.4068A>G",
"hgvs_p": "p.Ser1356Ser",
"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.1294-11484T>C",
"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.496-11484T>C",
"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": "S",
"aa_end": null,
"aa_length": 1754,
"aa_ref": "S",
"aa_start": 1591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6596,
"cdna_start": 4782,
"cds_end": null,
"cds_length": 5265,
"cds_start": 4773,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_130444.3",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.4773A>G",
"hgvs_p": "p.Ser1591Ser",
"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": "S",
"aa_end": null,
"aa_length": 1754,
"aa_ref": "S",
"aa_start": 1591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6586,
"cdna_start": 4773,
"cds_end": null,
"cds_length": 5265,
"cds_start": 4773,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000359759.8",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.4773A>G",
"hgvs_p": "p.Ser1591Ser",
"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": "S",
"aa_end": null,
"aa_length": 1519,
"aa_ref": "S",
"aa_start": 1356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5891,
"cdna_start": 4077,
"cds_end": null,
"cds_length": 4560,
"cds_start": 4068,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_030582.4",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.4068A>G",
"hgvs_p": "p.Ser1356Ser",
"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": "S",
"aa_end": null,
"aa_length": 1483,
"aa_ref": "S",
"aa_start": 1320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5863,
"cdna_start": 4049,
"cds_end": null,
"cds_length": 4452,
"cds_start": 3960,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000859062.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3960A>G",
"hgvs_p": "p.Ser1320Ser",
"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": "S",
"aa_end": null,
"aa_length": 1421,
"aa_ref": "S",
"aa_start": 1258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4497,
"cdna_start": 3835,
"cds_end": null,
"cds_length": 4266,
"cds_start": 3774,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000930602.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3774A>G",
"hgvs_p": "p.Ser1258Ser",
"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": "S",
"aa_end": null,
"aa_length": 1362,
"aa_ref": "S",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4317,
"cdna_start": 3658,
"cds_end": null,
"cds_length": 4089,
"cds_start": 3597,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000859069.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3597A>G",
"hgvs_p": "p.Ser1199Ser",
"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": "S",
"aa_end": null,
"aa_length": 1359,
"aa_ref": "S",
"aa_start": 1196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4313,
"cdna_start": 3654,
"cds_end": null,
"cds_length": 4080,
"cds_start": 3588,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000859068.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3588A>G",
"hgvs_p": "p.Ser1196Ser",
"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": "S",
"aa_end": null,
"aa_length": 1357,
"aa_ref": "S",
"aa_start": 1194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5482,
"cdna_start": 3668,
"cds_end": null,
"cds_length": 4074,
"cds_start": 3582,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000859063.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3582A>G",
"hgvs_p": "p.Ser1194Ser",
"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": "S",
"aa_end": null,
"aa_length": 1350,
"aa_ref": "S",
"aa_start": 1187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5475,
"cdna_start": 3662,
"cds_end": null,
"cds_length": 4053,
"cds_start": 3561,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000859060.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3561A>G",
"hgvs_p": "p.Ser1187Ser",
"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": "S",
"aa_end": null,
"aa_length": 1336,
"aa_ref": "S",
"aa_start": 1173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5393,
"cdna_start": 3580,
"cds_end": null,
"cds_length": 4011,
"cds_start": 3519,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000970099.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3519A>G",
"hgvs_p": "p.Ser1173Ser",
"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": "S",
"aa_end": null,
"aa_length": 1331,
"aa_ref": "S",
"aa_start": 1168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4248,
"cdna_start": 3593,
"cds_end": null,
"cds_length": 3996,
"cds_start": 3504,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000859066.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3504A>G",
"hgvs_p": "p.Ser1168Ser",
"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": "S",
"aa_end": null,
"aa_length": 1330,
"aa_ref": "S",
"aa_start": 1167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5399,
"cdna_start": 3586,
"cds_end": null,
"cds_length": 3993,
"cds_start": 3501,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000930597.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3501A>G",
"hgvs_p": "p.Ser1167Ser",
"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": "S",
"aa_end": null,
"aa_length": 1330,
"aa_ref": "S",
"aa_start": 1167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5406,
"cdna_start": 3593,
"cds_end": null,
"cds_length": 3993,
"cds_start": 3501,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000970097.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3501A>G",
"hgvs_p": "p.Ser1167Ser",
"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": "S",
"aa_end": null,
"aa_length": 1329,
"aa_ref": "S",
"aa_start": 1166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4241,
"cdna_start": 3564,
"cds_end": null,
"cds_length": 3990,
"cds_start": 3498,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000859067.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3498A>G",
"hgvs_p": "p.Ser1166Ser",
"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": "S",
"aa_end": null,
"aa_length": 1327,
"aa_ref": "S",
"aa_start": 1164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5414,
"cdna_start": 3600,
"cds_end": null,
"cds_length": 3984,
"cds_start": 3492,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000859059.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3492A>G",
"hgvs_p": "p.Ser1164Ser",
"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": "S",
"aa_end": null,
"aa_length": 1321,
"aa_ref": "S",
"aa_start": 1158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4202,
"cdna_start": 3540,
"cds_end": null,
"cds_length": 3966,
"cds_start": 3474,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000930601.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3474A>G",
"hgvs_p": "p.Ser1158Ser",
"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": "S",
"aa_end": null,
"aa_length": 1318,
"aa_ref": "S",
"aa_start": 1155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5373,
"cdna_start": 3559,
"cds_end": null,
"cds_length": 3957,
"cds_start": 3465,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000930595.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3465A>G",
"hgvs_p": "p.Ser1155Ser",
"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": "S",
"aa_end": null,
"aa_length": 1310,
"aa_ref": "S",
"aa_start": 1147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5318,
"cdna_start": 3507,
"cds_end": null,
"cds_length": 3933,
"cds_start": 3441,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000859064.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3441A>G",
"hgvs_p": "p.Ser1147Ser",
"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": "S",
"aa_end": null,
"aa_length": 1297,
"aa_ref": "S",
"aa_start": 1134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5303,
"cdna_start": 3488,
"cds_end": null,
"cds_length": 3894,
"cds_start": 3402,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000970098.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3402A>G",
"hgvs_p": "p.Ser1134Ser",
"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": "S",
"aa_end": null,
"aa_length": 1293,
"aa_ref": "S",
"aa_start": 1130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5289,
"cdna_start": 3475,
"cds_end": null,
"cds_length": 3882,
"cds_start": 3390,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000930596.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3390A>G",
"hgvs_p": "p.Ser1130Ser",
"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": "S",
"aa_end": null,
"aa_length": 1292,
"aa_ref": "S",
"aa_start": 1129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5296,
"cdna_start": 3481,
"cds_end": null,
"cds_length": 3879,
"cds_start": 3387,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000859061.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3387A>G",
"hgvs_p": "p.Ser1129Ser",
"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": "S",
"aa_end": null,
"aa_length": 1286,
"aa_ref": "S",
"aa_start": 1123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4116,
"cdna_start": 3435,
"cds_end": null,
"cds_length": 3861,
"cds_start": 3369,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000859065.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3369A>G",
"hgvs_p": "p.Ser1123Ser",
"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": "S",
"aa_end": null,
"aa_length": 1274,
"aa_ref": "S",
"aa_start": 1111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5242,
"cdna_start": 3427,
"cds_end": null,
"cds_length": 3825,
"cds_start": 3333,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000930594.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3333A>G",
"hgvs_p": "p.Ser1111Ser",
"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": "S",
"aa_end": null,
"aa_length": 1268,
"aa_ref": "S",
"aa_start": 1105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4062,
"cdna_start": 3385,
"cds_end": null,
"cds_length": 3807,
"cds_start": 3315,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000930600.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3315A>G",
"hgvs_p": "p.Ser1105Ser",
"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": "S",
"aa_end": null,
"aa_length": 1266,
"aa_ref": "S",
"aa_start": 1103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5201,
"cdna_start": 3387,
"cds_end": null,
"cds_length": 3801,
"cds_start": 3309,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000930598.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3309A>G",
"hgvs_p": "p.Ser1103Ser",
"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": "S",
"aa_end": null,
"aa_length": 1239,
"aa_ref": "S",
"aa_start": 1076,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5104,
"cdna_start": 3293,
"cds_end": null,
"cds_length": 3720,
"cds_start": 3228,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000930599.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.3228A>G",
"hgvs_p": "p.Ser1076Ser",
"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": "S",
"aa_end": null,
"aa_length": 961,
"aa_ref": "S",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3111,
"cdna_start": 2451,
"cds_end": null,
"cds_length": 2886,
"cds_start": 2394,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000970100.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.2394A>G",
"hgvs_p": "p.Ser798Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 687,
"aa_ref": "S",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3386,
"cdna_start": 1572,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1572,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000342220.9",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.1572A>G",
"hgvs_p": "p.Ser524Ser",
"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": "S",
"aa_end": null,
"aa_length": 278,
"aa_ref": "S",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 839,
"cdna_start": 482,
"cds_end": null,
"cds_length": 837,
"cds_start": 480,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000423214.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "c.480A>G",
"hgvs_p": "p.Ser160Ser",
"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
},
{
"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.1360-7127T>C",
"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.1294-7127T>C",
"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.1294-7127T>C",
"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": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2515,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000473212.1",
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"hgvs_c": "n.1854A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000473212.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs9980939",
"effect": "synonymous_variant",
"frequency_reference_population": 0.00954977,
"gene_hgnc_id": 2195,
"gene_symbol": "COL18A1",
"gnomad_exomes_ac": 12428,
"gnomad_exomes_af": 0.00865288,
"gnomad_exomes_homalt": 99,
"gnomad_genomes_ac": 2742,
"gnomad_genomes_af": 0.0180115,
"gnomad_genomes_homalt": 45,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 144,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -5.8,
"pos": 45510096,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.146,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_130444.3"
}
]
}