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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: 2-181928257-TAT-AAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=181928257&ref=TAT&alt=AAC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ITPRID2",
"hgnc_id": 11319,
"hgvs_c": "c.3772_3774delTATinsAAC",
"hgvs_p": "p.Tyr1258Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001130445.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AAC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1259,
"aa_ref": "Y",
"aa_start": 1258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5308,
"cdna_start": 4109,
"cds_end": null,
"cds_length": 3780,
"cds_start": 3772,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001130445.3",
"gene_hgnc_id": 11319,
"gene_symbol": "ITPRID2",
"hgvs_c": "c.3772_3774delTATinsAAC",
"hgvs_p": "p.Tyr1258Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000431877.7",
"protein_coding": true,
"protein_id": "NP_001123917.1",
"strand": true,
"transcript": "NM_001130445.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1259,
"aa_ref": "Y",
"aa_start": 1258,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5308,
"cdna_start": 4109,
"cds_end": null,
"cds_length": 3780,
"cds_start": 3772,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000431877.7",
"gene_hgnc_id": 11319,
"gene_symbol": "ITPRID2",
"hgvs_c": "c.3772_3774delTATinsAAC",
"hgvs_p": "p.Tyr1258Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001130445.3",
"protein_coding": true,
"protein_id": "ENSP00000388731.2",
"strand": true,
"transcript": "ENST00000431877.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1237,
"aa_ref": "Y",
"aa_start": 1236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4987,
"cdna_start": 3788,
"cds_end": null,
"cds_length": 3714,
"cds_start": 3706,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409001.5",
"gene_hgnc_id": 11319,
"gene_symbol": "ITPRID2",
"hgvs_c": "c.3706_3708delTATinsAAC",
"hgvs_p": "p.Tyr1236Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387319.1",
"strand": true,
"transcript": "ENST00000409001.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1256,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4965,
"cdna_start": null,
"cds_end": null,
"cds_length": 3771,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000320370.11",
"gene_hgnc_id": 11319,
"gene_symbol": "ITPRID2",
"hgvs_c": "c.3676-1304_3676-1302delTATinsAAC",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000314669.7",
"strand": true,
"transcript": "ENST00000320370.11",
"transcript_support_level": 1
},
{
"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": 5067,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000416081.5",
"gene_hgnc_id": 11319,
"gene_symbol": "ITPRID2",
"hgvs_c": "n.*3309_*3311delTATinsAAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000415625.1",
"strand": true,
"transcript": "ENST00000416081.5",
"transcript_support_level": 1
},
{
"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": 5067,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000416081.5",
"gene_hgnc_id": 11319,
"gene_symbol": "ITPRID2",
"hgvs_c": "n.*3309_*3311delTATinsAAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000415625.1",
"strand": true,
"transcript": "ENST00000416081.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1237,
"aa_ref": "Y",
"aa_start": 1236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5242,
"cdna_start": 4043,
"cds_end": null,
"cds_length": 3714,
"cds_start": 3706,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001287503.2",
"gene_hgnc_id": 11319,
"gene_symbol": "ITPRID2",
"hgvs_c": "c.3706_3708delTATinsAAC",
"hgvs_p": "p.Tyr1236Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274432.1",
"strand": true,
"transcript": "NM_001287503.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1084,
"aa_ref": "Y",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5192,
"cdna_start": 3993,
"cds_end": null,
"cds_length": 3255,
"cds_start": 3247,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001287504.2",
"gene_hgnc_id": 11319,
"gene_symbol": "ITPRID2",
"hgvs_c": "c.3247_3249delTATinsAAC",
"hgvs_p": "p.Tyr1083Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274433.1",
"strand": true,
"transcript": "NM_001287504.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 768,
"aa_ref": "Y",
"aa_start": 767,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3610,
"cdna_start": 2411,
"cds_end": null,
"cds_length": 2307,
"cds_start": 2299,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409136.5",
"gene_hgnc_id": 11319,
"gene_symbol": "ITPRID2",
"hgvs_c": "c.2299_2301delTATinsAAC",
"hgvs_p": "p.Tyr767Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386916.1",
"strand": true,
"transcript": "ENST00000409136.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1255,
"aa_ref": "Y",
"aa_start": 1254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4118,
"cdna_start": 4097,
"cds_end": null,
"cds_length": 3768,
"cds_start": 3760,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047445596.1",
"gene_hgnc_id": 11319,
"gene_symbol": "ITPRID2",
"hgvs_c": "c.3760_3762delTATinsAAC",
"hgvs_p": "p.Tyr1254Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301552.1",
"strand": true,
"transcript": "XM_047445596.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "Y",
"aa_start": 1105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3558,
"cdna_start": 3537,
"cds_end": null,
"cds_length": 3321,
"cds_start": 3313,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047445597.1",
"gene_hgnc_id": 11319,
"gene_symbol": "ITPRID2",
"hgvs_c": "c.3313_3315delTATinsAAC",
"hgvs_p": "p.Tyr1105Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301553.1",
"strand": true,
"transcript": "XM_047445597.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 768,
"aa_ref": "Y",
"aa_start": 767,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2938,
"cdna_start": 2917,
"cds_end": null,
"cds_length": 2307,
"cds_start": 2299,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011511702.4",
"gene_hgnc_id": 11319,
"gene_symbol": "ITPRID2",
"hgvs_c": "c.2299_2301delTATinsAAC",
"hgvs_p": "p.Tyr767Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011510004.1",
"strand": true,
"transcript": "XM_011511702.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 727,
"aa_ref": "Y",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2393,
"cdna_start": 2372,
"cds_end": null,
"cds_length": 2184,
"cds_start": 2176,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047445599.1",
"gene_hgnc_id": 11319,
"gene_symbol": "ITPRID2",
"hgvs_c": "c.2176_2178delTATinsAAC",
"hgvs_p": "p.Tyr726Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301555.1",
"strand": true,
"transcript": "XM_047445599.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1256,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5190,
"cdna_start": null,
"cds_end": null,
"cds_length": 3771,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006751.7",
"gene_hgnc_id": 11319,
"gene_symbol": "ITPRID2",
"hgvs_c": "c.3676-1304_3676-1302delTATinsAAC",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006742.2",
"strand": true,
"transcript": "NM_006751.7",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 201,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 747,
"cdna_start": null,
"cds_end": null,
"cds_length": 606,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000451836.1",
"gene_hgnc_id": 11319,
"gene_symbol": "ITPRID2",
"hgvs_c": "c.511-1304_511-1302delTATinsAAC",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387420.1",
"strand": true,
"transcript": "ENST00000451836.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1252,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5178,
"cdna_start": null,
"cds_end": null,
"cds_length": 3759,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005246813.3",
"gene_hgnc_id": 11319,
"gene_symbol": "ITPRID2",
"hgvs_c": "c.3664-1304_3664-1302delTATinsAAC",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246870.1",
"strand": true,
"transcript": "XM_005246813.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1234,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5124,
"cdna_start": null,
"cds_end": null,
"cds_length": 3705,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017004782.3",
"gene_hgnc_id": 11319,
"gene_symbol": "ITPRID2",
"hgvs_c": "c.3610-1304_3610-1302delTATinsAAC",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860271.1",
"strand": true,
"transcript": "XM_017004782.3",
"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": 5420,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000440623.5",
"gene_hgnc_id": 11319,
"gene_symbol": "ITPRID2",
"hgvs_c": "n.*3887_*3889delTATinsAAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000403754.1",
"strand": true,
"transcript": "ENST00000440623.5",
"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": 3772,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000454579.5",
"gene_hgnc_id": 11319,
"gene_symbol": "ITPRID2",
"hgvs_c": "n.*3243_*3245delTATinsAAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000392049.1",
"strand": true,
"transcript": "ENST00000454579.5",
"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": 6473,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000491720.5",
"gene_hgnc_id": 11319,
"gene_symbol": "ITPRID2",
"hgvs_c": "n.5274_5276delTATinsAAC",
"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": "ENST00000491720.5",
"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": 5886,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
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