← 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: 16-16177518-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=16177518&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"stop_gained"
],
"gene_symbol": "ABCC6",
"hgnc_id": 57,
"hgvs_c": "c.2524C>T",
"hgvs_p": "p.Gln842*",
"inheritance_mode": "AR,AD,SD",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_001171.6",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.29,
"chr": "16",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Autosomal recessive inherited pseudoxanthoma elasticum",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.28999999165534973,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1503,
"aa_ref": "Q",
"aa_start": 842,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5140,
"cdna_start": 2584,
"cds_end": null,
"cds_length": 4512,
"cds_start": 2524,
"consequences": [
"stop_gained"
],
"exon_count": 31,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001171.6",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2524C>T",
"hgvs_p": "p.Gln842*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000205557.12",
"protein_coding": true,
"protein_id": "NP_001162.5",
"strand": false,
"transcript": "NM_001171.6",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1503,
"aa_ref": "Q",
"aa_start": 842,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5140,
"cdna_start": 2584,
"cds_end": null,
"cds_length": 4512,
"cds_start": 2524,
"consequences": [
"stop_gained"
],
"exon_count": 31,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000205557.12",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2524C>T",
"hgvs_p": "p.Gln842*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001171.6",
"protein_coding": true,
"protein_id": "ENSP00000205557.7",
"strand": false,
"transcript": "ENST00000205557.12",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1535,
"aa_ref": "Q",
"aa_start": 842,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5265,
"cdna_start": 2614,
"cds_end": null,
"cds_length": 4608,
"cds_start": 2524,
"consequences": [
"stop_gained"
],
"exon_count": 32,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000909083.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2524C>T",
"hgvs_p": "p.Gln842*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579142.1",
"strand": false,
"transcript": "ENST00000909083.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1534,
"aa_ref": "Q",
"aa_start": 842,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5215,
"cdna_start": 2567,
"cds_end": null,
"cds_length": 4605,
"cds_start": 2524,
"consequences": [
"stop_gained"
],
"exon_count": 32,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000909090.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2524C>T",
"hgvs_p": "p.Gln842*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579149.1",
"strand": false,
"transcript": "ENST00000909090.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1533,
"aa_ref": "Q",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5229,
"cdna_start": 2673,
"cds_end": null,
"cds_length": 4602,
"cds_start": 2614,
"consequences": [
"stop_gained"
],
"exon_count": 32,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000909087.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2614C>T",
"hgvs_p": "p.Gln872*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579146.1",
"strand": false,
"transcript": "ENST00000909087.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1515,
"aa_ref": "Q",
"aa_start": 854,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5148,
"cdna_start": 2593,
"cds_end": null,
"cds_length": 4548,
"cds_start": 2560,
"consequences": [
"stop_gained"
],
"exon_count": 31,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000909096.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2560C>T",
"hgvs_p": "p.Gln854*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579155.1",
"strand": false,
"transcript": "ENST00000909096.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1511,
"aa_ref": "Q",
"aa_start": 842,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5164,
"cdna_start": 2586,
"cds_end": null,
"cds_length": 4536,
"cds_start": 2524,
"consequences": [
"stop_gained"
],
"exon_count": 31,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000909085.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2524C>T",
"hgvs_p": "p.Gln842*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579144.1",
"strand": false,
"transcript": "ENST00000909085.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1507,
"aa_ref": "Q",
"aa_start": 842,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5102,
"cdna_start": 2567,
"cds_end": null,
"cds_length": 4524,
"cds_start": 2524,
"consequences": [
"stop_gained"
],
"exon_count": 32,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000909097.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2524C>T",
"hgvs_p": "p.Gln842*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579156.1",
"strand": false,
"transcript": "ENST00000909097.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1492,
"aa_ref": "Q",
"aa_start": 831,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5107,
"cdna_start": 2551,
"cds_end": null,
"cds_length": 4479,
"cds_start": 2491,
"consequences": [
"stop_gained"
],
"exon_count": 31,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001440309.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2491C>T",
"hgvs_p": "p.Gln831*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427238.1",
"strand": false,
"transcript": "NM_001440309.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1492,
"aa_ref": "Q",
"aa_start": 831,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5106,
"cdna_start": 2551,
"cds_end": null,
"cds_length": 4479,
"cds_start": 2491,
"consequences": [
"stop_gained"
],
"exon_count": 31,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000909086.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2491C>T",
"hgvs_p": "p.Gln831*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579145.1",
"strand": false,
"transcript": "ENST00000909086.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1490,
"aa_ref": "Q",
"aa_start": 842,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5073,
"cdna_start": 2557,
"cds_end": null,
"cds_length": 4473,
"cds_start": 2524,
"consequences": [
"stop_gained"
],
"exon_count": 31,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000909094.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2524C>T",
"hgvs_p": "p.Gln842*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579153.1",
"strand": false,
"transcript": "ENST00000909094.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1486,
"aa_ref": "Q",
"aa_start": 825,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5061,
"cdna_start": 2506,
"cds_end": null,
"cds_length": 4461,
"cds_start": 2473,
"consequences": [
"stop_gained"
],
"exon_count": 31,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000909095.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2473C>T",
"hgvs_p": "p.Gln825*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579154.1",
"strand": false,
"transcript": "ENST00000909095.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1478,
"aa_ref": "Q",
"aa_start": 817,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5041,
"cdna_start": 2486,
"cds_end": null,
"cds_length": 4437,
"cds_start": 2449,
"consequences": [
"stop_gained"
],
"exon_count": 31,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000909091.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2449C>T",
"hgvs_p": "p.Gln817*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579150.1",
"strand": false,
"transcript": "ENST00000909091.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1476,
"aa_ref": "Q",
"aa_start": 842,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5046,
"cdna_start": 2572,
"cds_end": null,
"cds_length": 4431,
"cds_start": 2524,
"consequences": [
"stop_gained"
],
"exon_count": 31,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000909089.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2524C>T",
"hgvs_p": "p.Gln842*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579148.1",
"strand": false,
"transcript": "ENST00000909089.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1472,
"aa_ref": "Q",
"aa_start": 811,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5023,
"cdna_start": 2468,
"cds_end": null,
"cds_length": 4419,
"cds_start": 2431,
"consequences": [
"stop_gained"
],
"exon_count": 30,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000909092.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2431C>T",
"hgvs_p": "p.Gln811*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579151.1",
"strand": false,
"transcript": "ENST00000909092.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1469,
"aa_ref": "Q",
"aa_start": 842,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5180,
"cdna_start": 2727,
"cds_end": null,
"cds_length": 4410,
"cds_start": 2524,
"consequences": [
"stop_gained"
],
"exon_count": 30,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000946282.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2524C>T",
"hgvs_p": "p.Gln842*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616341.1",
"strand": false,
"transcript": "ENST00000946282.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1469,
"aa_ref": "Q",
"aa_start": 811,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4924,
"cdna_start": 2486,
"cds_end": null,
"cds_length": 4410,
"cds_start": 2431,
"consequences": [
"stop_gained"
],
"exon_count": 30,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000946285.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2431C>T",
"hgvs_p": "p.Gln811*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616344.1",
"strand": false,
"transcript": "ENST00000946285.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1461,
"aa_ref": "Q",
"aa_start": 800,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5008,
"cdna_start": 2453,
"cds_end": null,
"cds_length": 4386,
"cds_start": 2398,
"consequences": [
"stop_gained"
],
"exon_count": 30,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000909088.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2398C>T",
"hgvs_p": "p.Gln800*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579147.1",
"strand": false,
"transcript": "ENST00000909088.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1459,
"aa_ref": "Q",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4983,
"cdna_start": 2429,
"cds_end": null,
"cds_length": 4380,
"cds_start": 2392,
"consequences": [
"stop_gained"
],
"exon_count": 30,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000909093.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2392C>T",
"hgvs_p": "p.Gln798*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579152.1",
"strand": false,
"transcript": "ENST00000909093.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1455,
"aa_ref": "Q",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4962,
"cdna_start": 2406,
"cds_end": null,
"cds_length": 4368,
"cds_start": 2380,
"consequences": [
"stop_gained"
],
"exon_count": 30,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000946284.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2380C>T",
"hgvs_p": "p.Gln794*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616343.1",
"strand": false,
"transcript": "ENST00000946284.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1447,
"aa_ref": "Q",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4972,
"cdna_start": 2416,
"cds_end": null,
"cds_length": 4344,
"cds_start": 2356,
"consequences": [
"stop_gained"
],
"exon_count": 30,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001440310.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2356C>T",
"hgvs_p": "p.Gln786*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427239.1",
"strand": false,
"transcript": "NM_001440310.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1447,
"aa_ref": "Q",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4987,
"cdna_start": 2432,
"cds_end": null,
"cds_length": 4344,
"cds_start": 2356,
"consequences": [
"stop_gained"
],
"exon_count": 30,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000909084.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2356C>T",
"hgvs_p": "p.Gln786*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579143.1",
"strand": false,
"transcript": "ENST00000909084.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1423,
"aa_ref": "Q",
"aa_start": 842,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 2560,
"cds_end": null,
"cds_length": 4272,
"cds_start": 2524,
"consequences": [
"stop_gained"
],
"exon_count": 30,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000946283.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2524C>T",
"hgvs_p": "p.Gln842*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616342.1",
"strand": false,
"transcript": "ENST00000946283.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1389,
"aa_ref": "Q",
"aa_start": 728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5148,
"cdna_start": 2592,
"cds_end": null,
"cds_length": 4170,
"cds_start": 2182,
"consequences": [
"stop_gained"
],
"exon_count": 31,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001351800.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "c.2182C>T",
"hgvs_p": "p.Gln728*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338729.1",
"strand": false,
"transcript": "NM_001351800.1",
"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": 476,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000576683.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "n.4C>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": "ENST00000576683.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5203,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000622290.5",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "n.2524C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000483331.2",
"strand": false,
"transcript": "ENST00000622290.5",
"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": 5227,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NR_199641.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "n.2723C>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_199641.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5203,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NR_199642.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "n.2584C>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_199642.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5003,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NR_199643.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "n.2584C>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_199643.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4137,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000456970.6",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "n.2415+1280C>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000405002.2",
"strand": false,
"transcript": "ENST00000456970.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4742,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_147784.1",
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"hgvs_c": "n.2452+1280C>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_147784.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs72653703",
"effect": "stop_gained",
"frequency_reference_population": null,
"gene_hgnc_id": 57,
"gene_symbol": "ABCC6",
"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": "Likely pathogenic",
"phenotype_combined": "Autosomal recessive inherited pseudoxanthoma elasticum",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.543,
"pos": 16177518,
"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_001171.6"
}
]
}