← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 12-53713878-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=53713878&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CALCOCO1",
"hgnc_id": 29306,
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Asp538Asp",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_020898.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 691,
"aa_ref": "D",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5576,
"cdna_start": 1687,
"cds_end": null,
"cds_length": 2076,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_020898.3",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Asp538Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000550804.6",
"protein_coding": true,
"protein_id": "NP_065949.1",
"strand": false,
"transcript": "NM_020898.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 691,
"aa_ref": "D",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5576,
"cdna_start": 1687,
"cds_end": null,
"cds_length": 2076,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000550804.6",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Asp538Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020898.3",
"protein_coding": true,
"protein_id": "ENSP00000449960.1",
"strand": false,
"transcript": "ENST00000550804.6",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 633,
"aa_ref": "D",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3888,
"cdna_start": 1663,
"cds_end": null,
"cds_length": 1902,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000548263.5",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Asp538Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447647.1",
"strand": false,
"transcript": "ENST00000548263.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 231,
"aa_ref": "D",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1523,
"cdna_start": 164,
"cds_end": null,
"cds_length": 696,
"cds_start": 162,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000546443.5",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.162C>T",
"hgvs_p": "p.Asp54Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456437.1",
"strand": false,
"transcript": "ENST00000546443.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 710,
"aa_ref": "D",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3039,
"cdna_start": 1694,
"cds_end": null,
"cds_length": 2133,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000943517.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Asp538Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613576.1",
"strand": false,
"transcript": "ENST00000943517.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 701,
"aa_ref": "D",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2996,
"cdna_start": 1678,
"cds_end": null,
"cds_length": 2106,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000943523.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Asp538Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613582.1",
"strand": false,
"transcript": "ENST00000943523.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 693,
"aa_ref": "D",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3006,
"cdna_start": 1720,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1620,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000943515.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1620C>T",
"hgvs_p": "p.Asp540Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613574.1",
"strand": false,
"transcript": "ENST00000943515.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 691,
"aa_ref": "D",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2961,
"cdna_start": 1673,
"cds_end": null,
"cds_length": 2076,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000886084.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Asp538Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556143.1",
"strand": false,
"transcript": "ENST00000886084.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 691,
"aa_ref": "D",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2993,
"cdna_start": 1707,
"cds_end": null,
"cds_length": 2076,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000886090.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Asp538Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556149.1",
"strand": false,
"transcript": "ENST00000886090.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 691,
"aa_ref": "D",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3078,
"cdna_start": 1836,
"cds_end": null,
"cds_length": 2076,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000886096.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Asp538Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556155.1",
"strand": false,
"transcript": "ENST00000886096.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 691,
"aa_ref": "D",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3037,
"cdna_start": 1798,
"cds_end": null,
"cds_length": 2076,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000886097.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Asp538Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556156.1",
"strand": false,
"transcript": "ENST00000886097.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 691,
"aa_ref": "D",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3180,
"cdna_start": 1892,
"cds_end": null,
"cds_length": 2076,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000922935.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Asp538Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592994.1",
"strand": false,
"transcript": "ENST00000922935.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 691,
"aa_ref": "D",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3037,
"cdna_start": 1753,
"cds_end": null,
"cds_length": 2076,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000943519.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Asp538Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613578.1",
"strand": false,
"transcript": "ENST00000943519.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 691,
"aa_ref": "D",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3032,
"cdna_start": 1749,
"cds_end": null,
"cds_length": 2076,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000943520.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Asp538Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613579.1",
"strand": false,
"transcript": "ENST00000943520.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 691,
"aa_ref": "D",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3059,
"cdna_start": 1812,
"cds_end": null,
"cds_length": 2076,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000943524.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Asp538Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613583.1",
"strand": false,
"transcript": "ENST00000943524.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 691,
"aa_ref": "D",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3499,
"cdna_start": 2200,
"cds_end": null,
"cds_length": 2076,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000943526.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Asp538Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613585.1",
"strand": false,
"transcript": "ENST00000943526.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 690,
"aa_ref": "D",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5866,
"cdna_start": 1980,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000262059.8",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Asp538Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262059.4",
"strand": false,
"transcript": "ENST00000262059.8",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 690,
"aa_ref": "D",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2992,
"cdna_start": 1705,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1611,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000943516.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1611C>T",
"hgvs_p": "p.Asp537Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613575.1",
"strand": false,
"transcript": "ENST00000943516.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 689,
"aa_ref": "D",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2977,
"cdna_start": 1689,
"cds_end": null,
"cds_length": 2070,
"cds_start": 1608,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000886085.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1608C>T",
"hgvs_p": "p.Asp536Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556144.1",
"strand": false,
"transcript": "ENST00000886085.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 689,
"aa_ref": "D",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2976,
"cdna_start": 1689,
"cds_end": null,
"cds_length": 2070,
"cds_start": 1608,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000886086.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1608C>T",
"hgvs_p": "p.Asp536Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556145.1",
"strand": false,
"transcript": "ENST00000886086.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 689,
"aa_ref": "D",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2969,
"cdna_start": 1681,
"cds_end": null,
"cds_length": 2070,
"cds_start": 1608,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000886088.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1608C>T",
"hgvs_p": "p.Asp536Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556147.1",
"strand": false,
"transcript": "ENST00000886088.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 684,
"aa_ref": "D",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2988,
"cdna_start": 1700,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000886083.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1593C>T",
"hgvs_p": "p.Asp531Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556142.1",
"strand": false,
"transcript": "ENST00000886083.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 684,
"aa_ref": "D",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2900,
"cdna_start": 1652,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000886093.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1593C>T",
"hgvs_p": "p.Asp531Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556152.1",
"strand": false,
"transcript": "ENST00000886093.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 684,
"aa_ref": "D",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2977,
"cdna_start": 1730,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000886095.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1593C>T",
"hgvs_p": "p.Asp531Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556154.1",
"strand": false,
"transcript": "ENST00000886095.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 669,
"aa_ref": "D",
"aa_start": 516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2901,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1548,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000943522.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1548C>T",
"hgvs_p": "p.Asp516Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613581.1",
"strand": false,
"transcript": "ENST00000943522.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 661,
"aa_ref": "D",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2891,
"cdna_start": 1605,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1524,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000886087.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1524C>T",
"hgvs_p": "p.Asp508Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556146.1",
"strand": false,
"transcript": "ENST00000886087.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 649,
"aa_ref": "D",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2809,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1488,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000886091.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1488C>T",
"hgvs_p": "p.Asp496Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556150.1",
"strand": false,
"transcript": "ENST00000886091.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 649,
"aa_ref": "D",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2019,
"cdna_start": 1549,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1488,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000943525.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1488C>T",
"hgvs_p": "p.Asp496Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613584.1",
"strand": false,
"transcript": "ENST00000943525.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 624,
"aa_ref": "D",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2773,
"cdna_start": 1486,
"cds_end": null,
"cds_length": 1875,
"cds_start": 1413,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000943518.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1413C>T",
"hgvs_p": "p.Asp471Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613577.1",
"strand": false,
"transcript": "ENST00000943518.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 606,
"aa_ref": "D",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5321,
"cdna_start": 1432,
"cds_end": null,
"cds_length": 1821,
"cds_start": 1359,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001143682.2",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1359C>T",
"hgvs_p": "p.Asp453Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137154.1",
"strand": false,
"transcript": "NM_001143682.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 606,
"aa_ref": "D",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2706,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 1821,
"cds_start": 1359,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000430117.6",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1359C>T",
"hgvs_p": "p.Asp453Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397189.2",
"strand": false,
"transcript": "ENST00000430117.6",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 606,
"aa_ref": "D",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2673,
"cdna_start": 1426,
"cds_end": null,
"cds_length": 1821,
"cds_start": 1359,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000886094.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1359C>T",
"hgvs_p": "p.Asp453Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556153.1",
"strand": false,
"transcript": "ENST00000886094.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 593,
"aa_ref": "D",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2640,
"cdna_start": 1393,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1320,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000886092.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1320C>T",
"hgvs_p": "p.Asp440Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556151.1",
"strand": false,
"transcript": "ENST00000886092.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 558,
"aa_ref": "D",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2570,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1215,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000943521.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1215C>T",
"hgvs_p": "p.Asp405Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613580.1",
"strand": false,
"transcript": "ENST00000943521.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 490,
"aa_ref": "D",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2370,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1011,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886089.1",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1011C>T",
"hgvs_p": "p.Asp337Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556148.1",
"strand": false,
"transcript": "ENST00000886089.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 715,
"aa_ref": "D",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5648,
"cdna_start": 1687,
"cds_end": null,
"cds_length": 2148,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011538601.2",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Asp538Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536903.1",
"strand": false,
"transcript": "XM_011538601.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 715,
"aa_ref": "D",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5718,
"cdna_start": 1757,
"cds_end": null,
"cds_length": 2148,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011538602.2",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Asp538Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536904.1",
"strand": false,
"transcript": "XM_011538602.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 715,
"aa_ref": "D",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6922,
"cdna_start": 2961,
"cds_end": null,
"cds_length": 2148,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011538603.3",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Asp538Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536905.1",
"strand": false,
"transcript": "XM_011538603.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 715,
"aa_ref": "D",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6878,
"cdna_start": 2917,
"cds_end": null,
"cds_length": 2148,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011538604.3",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Asp538Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536906.1",
"strand": false,
"transcript": "XM_011538604.3",
"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": 2112,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000549935.6",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "n.1898C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000549935.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5473,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NR_026554.2",
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"hgvs_c": "n.1584C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_026554.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs140431811",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0000026231573,
"gene_hgnc_id": 29306,
"gene_symbol": "CALCOCO1",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 7.2851e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197088,
"gnomad_genomes_homalt": 0,
"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": "Uncertain_significance",
"phylop100way_score": 4.409,
"pos": 53713878,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_020898.3"
}
]
}