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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: 14-58270970-TAAG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=58270970&ref=TAAG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM4_Supporting",
"PP5"
],
"effects": [
"conservative_inframe_deletion"
],
"gene_symbol": "PSMA3",
"hgnc_id": 9532,
"hgvs_c": "c.697_699delAGA",
"hgvs_p": "p.Arg233del",
"inheritance_mode": "Digenic",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_002788.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP5"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PSMA3-AS1",
"hgnc_id": 26445,
"hgvs_c": "n.446+3006_446+3008delCTT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000554360.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP5"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ARMH4",
"hgnc_id": 19846,
"hgvs_c": "n.258+20662_258+20664delCTT",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000554218.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting,PP5",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "14",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " DIGENIC,PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 255,
"aa_ref": "R",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 955,
"cdna_start": 775,
"cds_end": null,
"cds_length": 768,
"cds_start": 697,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_002788.4",
"gene_hgnc_id": 9532,
"gene_symbol": "PSMA3",
"hgvs_c": "c.697_699delAGA",
"hgvs_p": "p.Arg233del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000216455.9",
"protein_coding": true,
"protein_id": "NP_002779.1",
"strand": true,
"transcript": "NM_002788.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 255,
"aa_ref": "R",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 955,
"cdna_start": 775,
"cds_end": null,
"cds_length": 768,
"cds_start": 697,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000216455.9",
"gene_hgnc_id": 9532,
"gene_symbol": "PSMA3",
"hgvs_c": "c.697_699delAGA",
"hgvs_p": "p.Arg233del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002788.4",
"protein_coding": true,
"protein_id": "ENSP00000216455.4",
"strand": true,
"transcript": "ENST00000216455.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 248,
"aa_ref": "R",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 908,
"cdna_start": 720,
"cds_end": null,
"cds_length": 747,
"cds_start": 676,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000412908.6",
"gene_hgnc_id": 9532,
"gene_symbol": "PSMA3",
"hgvs_c": "c.676_678delAGA",
"hgvs_p": "p.Arg226del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390491.2",
"strand": true,
"transcript": "ENST00000412908.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2475,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554360.5",
"gene_hgnc_id": 26445,
"gene_symbol": "PSMA3-AS1",
"hgvs_c": "n.446+3006_446+3008delCTT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000554360.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 741,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554378.5",
"gene_hgnc_id": 26445,
"gene_symbol": "PSMA3-AS1",
"hgvs_c": "n.451+3006_451+3008delCTT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000554378.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 264,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1088,
"cdna_start": 905,
"cds_end": null,
"cds_length": 795,
"cds_start": 724,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000925587.1",
"gene_hgnc_id": 9532,
"gene_symbol": "PSMA3",
"hgvs_c": "c.724_726delAGA",
"hgvs_p": "p.Arg242del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595646.1",
"strand": true,
"transcript": "ENST00000925587.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 248,
"aa_ref": "R",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 934,
"cdna_start": 754,
"cds_end": null,
"cds_length": 747,
"cds_start": 676,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_152132.3",
"gene_hgnc_id": 9532,
"gene_symbol": "PSMA3",
"hgvs_c": "c.676_678delAGA",
"hgvs_p": "p.Arg226del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_687033.1",
"strand": true,
"transcript": "NM_152132.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 233,
"aa_ref": "R",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 884,
"cdna_start": 699,
"cds_end": null,
"cds_length": 702,
"cds_start": 631,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000876656.1",
"gene_hgnc_id": 9532,
"gene_symbol": "PSMA3",
"hgvs_c": "c.631_633delAGA",
"hgvs_p": "p.Arg211del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546715.1",
"strand": true,
"transcript": "ENST00000876656.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 228,
"aa_ref": "R",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 864,
"cdna_start": 680,
"cds_end": null,
"cds_length": 687,
"cds_start": 616,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000964944.1",
"gene_hgnc_id": 9532,
"gene_symbol": "PSMA3",
"hgvs_c": "c.616_618delAGA",
"hgvs_p": "p.Arg206del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635003.1",
"strand": true,
"transcript": "ENST00000964944.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 221,
"aa_ref": "R",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 799,
"cdna_start": 619,
"cds_end": null,
"cds_length": 666,
"cds_start": 595,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000925588.1",
"gene_hgnc_id": 9532,
"gene_symbol": "PSMA3",
"hgvs_c": "c.595_597delAGA",
"hgvs_p": "p.Arg199del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595647.1",
"strand": true,
"transcript": "ENST00000925588.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 186,
"aa_ref": "R",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 754,
"cdna_start": 577,
"cds_end": null,
"cds_length": 561,
"cds_start": 490,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876655.1",
"gene_hgnc_id": 9532,
"gene_symbol": "PSMA3",
"hgvs_c": "c.490_492delAGA",
"hgvs_p": "p.Arg164del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546714.1",
"strand": true,
"transcript": "ENST00000876655.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 180,
"aa_ref": "R",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 814,
"cdna_start": 631,
"cds_end": null,
"cds_length": 543,
"cds_start": 472,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000557508.5",
"gene_hgnc_id": 9532,
"gene_symbol": "PSMA3",
"hgvs_c": "c.472_474delAGA",
"hgvs_p": "p.Arg158del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452056.1",
"strand": true,
"transcript": "ENST00000557508.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 83,
"aa_ref": "R",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 363,
"cdna_start": 181,
"cds_end": null,
"cds_length": 252,
"cds_start": 181,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000553677.1",
"gene_hgnc_id": 9532,
"gene_symbol": "PSMA3",
"hgvs_c": "c.181_183delAGA",
"hgvs_p": "p.Arg61del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450573.1",
"strand": true,
"transcript": "ENST00000553677.1",
"transcript_support_level": 5
},
{
"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": 654,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000557087.5",
"gene_hgnc_id": 9532,
"gene_symbol": "PSMA3",
"hgvs_c": "n.*462_*464delAGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000451461.1",
"strand": true,
"transcript": "ENST00000557087.5",
"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": 730,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000557290.1",
"gene_hgnc_id": 9532,
"gene_symbol": "PSMA3",
"hgvs_c": "n.550_552delAGA",
"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": "ENST00000557290.1",
"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": 872,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NR_038123.2",
"gene_hgnc_id": 9532,
"gene_symbol": "PSMA3",
"hgvs_c": "n.692_694delAGA",
"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_038123.2",
"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": 654,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000557087.5",
"gene_hgnc_id": 9532,
"gene_symbol": "PSMA3",
"hgvs_c": "n.*462_*464delAGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000451461.1",
"strand": true,
"transcript": "ENST00000557087.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 572,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554218.1",
"gene_hgnc_id": 19846,
"gene_symbol": "ARMH4",
"hgvs_c": "n.258+20662_258+20664delCTT",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000554218.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 903,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000555275.5",
"gene_hgnc_id": 26445,
"gene_symbol": "PSMA3-AS1",
"hgvs_c": "n.398+3006_398+3008delCTT",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000555275.5",
"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": 1039,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000556002.5",
"gene_hgnc_id": 26445,
"gene_symbol": "PSMA3-AS1",
"hgvs_c": "n.253+3006_253+3008delCTT",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
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