← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-45013663-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=45013663&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "UROD",
"hgnc_id": 12591,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Gln116*",
"inheritance_mode": "AR,AD,SD",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_000374.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.1516,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.51,
"chr": "1",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Familial porphyria cutanea tarda,Porphyria cutanea tarda",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.020999999716877937,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 367,
"aa_ref": "Q",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1193,
"cdna_start": 358,
"cds_end": null,
"cds_length": 1104,
"cds_start": 346,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_000374.5",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Gln116*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000246337.9",
"protein_coding": true,
"protein_id": "NP_000365.3",
"strand": true,
"transcript": "NM_000374.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 367,
"aa_ref": "Q",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1193,
"cdna_start": 358,
"cds_end": null,
"cds_length": 1104,
"cds_start": 346,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000246337.9",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Gln116*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000374.5",
"protein_coding": true,
"protein_id": "ENSP00000246337.4",
"strand": true,
"transcript": "ENST00000246337.9",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 375,
"aa_ref": "Q",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1269,
"cdna_start": 436,
"cds_end": null,
"cds_length": 1128,
"cds_start": 370,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894914.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.370C>T",
"hgvs_p": "p.Gln124*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564973.1",
"strand": true,
"transcript": "ENST00000894914.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 372,
"aa_ref": "Q",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1249,
"cdna_start": 416,
"cds_end": null,
"cds_length": 1119,
"cds_start": 361,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000894916.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Gln121*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564975.1",
"strand": true,
"transcript": "ENST00000894916.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 372,
"aa_ref": "Q",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1225,
"cdna_start": 392,
"cds_end": null,
"cds_length": 1119,
"cds_start": 361,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894918.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Gln121*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564977.1",
"strand": true,
"transcript": "ENST00000894918.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 366,
"aa_ref": "Q",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1196,
"cdna_start": 366,
"cds_end": null,
"cds_length": 1101,
"cds_start": 346,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894919.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Gln116*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564978.1",
"strand": true,
"transcript": "ENST00000894919.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 364,
"aa_ref": "Q",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1212,
"cdna_start": 389,
"cds_end": null,
"cds_length": 1095,
"cds_start": 346,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894917.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Gln116*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564976.1",
"strand": true,
"transcript": "ENST00000894917.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 362,
"aa_ref": "Q",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1170,
"cdna_start": 354,
"cds_end": null,
"cds_length": 1089,
"cds_start": 346,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962747.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Gln116*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632806.1",
"strand": true,
"transcript": "ENST00000962747.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 346,
"aa_ref": "Q",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1177,
"cdna_start": 342,
"cds_end": null,
"cds_length": 1041,
"cds_start": 283,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000652287.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.283C>T",
"hgvs_p": "p.Gln95*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498413.1",
"strand": true,
"transcript": "ENST00000652287.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 343,
"aa_ref": "Q",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1121,
"cdna_start": 295,
"cds_end": null,
"cds_length": 1032,
"cds_start": 283,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000937007.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.283C>T",
"hgvs_p": "p.Gln95*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607066.1",
"strand": true,
"transcript": "ENST00000937007.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 341,
"aa_ref": "Q",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1119,
"cdna_start": 364,
"cds_end": null,
"cds_length": 1026,
"cds_start": 346,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894920.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Gln116*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564979.1",
"strand": true,
"transcript": "ENST00000894920.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 335,
"aa_ref": "Q",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1148,
"cdna_start": 409,
"cds_end": null,
"cds_length": 1008,
"cds_start": 346,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894915.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Gln116*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564974.1",
"strand": true,
"transcript": "ENST00000894915.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 332,
"aa_ref": "Q",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1335,
"cdna_start": 500,
"cds_end": null,
"cds_length": 999,
"cds_start": 241,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000651476.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Gln81*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498668.1",
"strand": true,
"transcript": "ENST00000651476.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 321,
"aa_ref": "Q",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1102,
"cdna_start": 405,
"cds_end": null,
"cds_length": 966,
"cds_start": 346,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000636293.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Gln116*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490710.1",
"strand": true,
"transcript": "ENST00000636293.1",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 320,
"aa_ref": "Q",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1060,
"cdna_start": 303,
"cds_end": null,
"cds_length": 963,
"cds_start": 283,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000937002.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.283C>T",
"hgvs_p": "p.Gln95*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607061.1",
"strand": true,
"transcript": "ENST00000937002.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 320,
"aa_ref": "Q",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1060,
"cdna_start": 366,
"cds_end": null,
"cds_length": 963,
"cds_start": 346,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000937003.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Gln116*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607062.1",
"strand": true,
"transcript": "ENST00000937003.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 314,
"aa_ref": "Q",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1030,
"cdna_start": 295,
"cds_end": null,
"cds_length": 945,
"cds_start": 283,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000894921.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.283C>T",
"hgvs_p": "p.Gln95*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564980.1",
"strand": true,
"transcript": "ENST00000894921.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 300,
"aa_ref": "Q",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1023,
"cdna_start": 326,
"cds_end": null,
"cds_length": 903,
"cds_start": 283,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000937000.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.283C>T",
"hgvs_p": "p.Gln95*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607059.1",
"strand": true,
"transcript": "ENST00000937000.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 298,
"aa_ref": "Q",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1173,
"cdna_start": 405,
"cds_end": null,
"cds_length": 897,
"cds_start": 346,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000636836.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Gln116*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490594.1",
"strand": true,
"transcript": "ENST00000636836.1",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 292,
"aa_ref": "Q",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 976,
"cdna_start": 303,
"cds_end": null,
"cds_length": 879,
"cds_start": 283,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000937004.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.283C>T",
"hgvs_p": "p.Gln95*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607063.1",
"strand": true,
"transcript": "ENST00000937004.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 288,
"aa_ref": "Q",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 959,
"cdna_start": 129,
"cds_end": null,
"cds_length": 867,
"cds_start": 109,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000937005.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.109C>T",
"hgvs_p": "p.Gln37*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607064.1",
"strand": true,
"transcript": "ENST00000937005.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 286,
"aa_ref": "Q",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1106,
"cdna_start": 414,
"cds_end": null,
"cds_length": 861,
"cds_start": 241,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000491773.6",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Gln81*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498551.1",
"strand": true,
"transcript": "ENST00000491773.6",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 286,
"aa_ref": "Q",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2138,
"cdna_start": 1512,
"cds_end": null,
"cds_length": 861,
"cds_start": 241,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000652165.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Gln81*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498295.1",
"strand": true,
"transcript": "ENST00000652165.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 274,
"aa_ref": "Q",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 838,
"cdna_start": 412,
"cds_end": null,
"cds_length": 826,
"cds_start": 400,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000434478.6",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Gln134*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404489.2",
"strand": true,
"transcript": "ENST00000434478.6",
"transcript_support_level": 3
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 246,
"aa_ref": "Q",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1044,
"cdna_start": 542,
"cds_end": null,
"cds_length": 743,
"cds_start": 241,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000469548.5",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Gln81*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498709.1",
"strand": true,
"transcript": "ENST00000469548.5",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 226,
"aa_ref": "Q",
"aa_start": 109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 682,
"cdna_start": 326,
"cds_end": null,
"cds_length": 681,
"cds_start": 325,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000428106.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.325C>T",
"hgvs_p": "p.Gln109*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400253.1",
"strand": true,
"transcript": "ENST00000428106.1",
"transcript_support_level": 3
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 92,
"aa_ref": "Q",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 536,
"cdna_start": 496,
"cds_end": null,
"cds_length": 281,
"cds_start": 241,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000650713.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Gln81*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499014.1",
"strand": true,
"transcript": "ENST00000650713.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 295,
"aa_ref": "Q",
"aa_start": 44,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1071,
"cdna_start": 236,
"cds_end": null,
"cds_length": 888,
"cds_start": 130,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047429958.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.130C>T",
"hgvs_p": "p.Gln44*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285914.1",
"strand": true,
"transcript": "XM_047429958.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 301,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1083,
"cdna_start": null,
"cds_end": null,
"cds_length": 906,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936999.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.277-246C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607058.1",
"strand": true,
"transcript": "ENST00000936999.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 280,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 951,
"cdna_start": null,
"cds_end": null,
"cds_length": 843,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937001.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.214-246C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607060.1",
"strand": true,
"transcript": "ENST00000937001.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 255,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 855,
"cdna_start": null,
"cds_end": null,
"cds_length": 768,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937008.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.300+46C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607067.1",
"strand": true,
"transcript": "ENST00000937008.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 180,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 635,
"cdna_start": null,
"cds_end": null,
"cds_length": 543,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937006.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "c.213+448C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607065.1",
"strand": true,
"transcript": "ENST00000937006.1",
"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": 663,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000460334.5",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "n.365C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498304.1",
"strand": true,
"transcript": "ENST00000460334.5",
"transcript_support_level": 5
},
{
"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": 820,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000460906.5",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "n.363C>T",
"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": "ENST00000460906.5",
"transcript_support_level": 5
},
{
"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": 901,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000462688.5",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "n.473C>T",
"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": "ENST00000462688.5",
"transcript_support_level": 5
},
{
"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": 968,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000463092.5",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "n.742C>T",
"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": "ENST00000463092.5",
"transcript_support_level": 2
},
{
"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": 632,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000473012.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "n.393C>T",
"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": "ENST00000473012.1",
"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": 857,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000478467.5",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "n.161C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498247.1",
"strand": true,
"transcript": "ENST00000478467.5",
"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": 968,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000486699.5",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "n.260C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499178.1",
"strand": true,
"transcript": "ENST00000486699.5",
"transcript_support_level": 3
},
{
"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": 860,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000490385.5",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "n.420C>T",
"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": "ENST00000490385.5",
"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": 884,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000491300.5",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "n.465C>T",
"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": "ENST00000491300.5",
"transcript_support_level": 5
},
{
"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": 1848,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000494399.5",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "n.486C>T",
"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": "ENST00000494399.5",
"transcript_support_level": 2
},
{
"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": 800,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000496439.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "n.325C>T",
"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": "ENST00000496439.1",
"transcript_support_level": 2
},
{
"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": 1142,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000652514.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "n.*124C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498635.1",
"strand": true,
"transcript": "ENST00000652514.1",
"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": 1243,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NR_036510.2",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "n.408C>T",
"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": "NR_036510.2",
"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": 1262,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NR_158184.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "n.427C>T",
"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": "NR_158184.1",
"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": 1212,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NR_158185.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "n.377C>T",
"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": "NR_158185.1",
"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": 1142,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000652514.1",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "n.*124C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498635.1",
"strand": true,
"transcript": "ENST00000652514.1",
"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": 486,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000461035.5",
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"hgvs_c": "n.*203C>T",
"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": "ENST00000461035.5",
"transcript_support_level": 1
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs397514765",
"effect": "stop_gained",
"frequency_reference_population": 0.0000024782933,
"gene_hgnc_id": 12591,
"gene_symbol": "UROD",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.00000205217,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657255,
"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": "Pathogenic",
"phenotype_combined": "Porphyria cutanea tarda|Familial porphyria cutanea tarda",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.064,
"pos": 45013663,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.021,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_000374.5"
}
]
}