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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: 19-307312-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=307312&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 307312,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001387152.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1423G>A",
"hgvs_p": "p.Ala475Thr",
"transcript": "NM_017550.3",
"protein_id": "NP_060020.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 545,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264819.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017550.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1423G>A",
"hgvs_p": "p.Ala475Thr",
"transcript": "ENST00000264819.7",
"protein_id": "ENSP00000264819.3",
"transcript_support_level": 1,
"aa_start": 475,
"aa_end": null,
"aa_length": 545,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017550.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264819.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1429G>A",
"hgvs_p": "p.Ala477Thr",
"transcript": "NM_001387152.1",
"protein_id": "NP_001374081.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 547,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387152.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1402G>A",
"hgvs_p": "p.Ala468Thr",
"transcript": "NM_001387153.1",
"protein_id": "NP_001374082.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 538,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387153.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1330G>A",
"hgvs_p": "p.Ala444Thr",
"transcript": "ENST00000931432.1",
"protein_id": "ENSP00000601491.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 514,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931432.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Ala439Thr",
"transcript": "NM_001346105.2",
"protein_id": "NP_001333034.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 509,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346105.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Ala439Thr",
"transcript": "NM_001387155.1",
"protein_id": "NP_001374084.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 509,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387155.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1297G>A",
"hgvs_p": "p.Ala433Thr",
"transcript": "ENST00000871288.1",
"protein_id": "ENSP00000541347.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 503,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871288.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1294G>A",
"hgvs_p": "p.Ala432Thr",
"transcript": "NM_001387154.1",
"protein_id": "NP_001374083.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 502,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387154.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Ala397Thr",
"transcript": "ENST00000871287.1",
"protein_id": "ENSP00000541346.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 467,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871287.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Ala391Thr",
"transcript": "NM_001387156.1",
"protein_id": "NP_001374085.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 461,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387156.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Ala391Thr",
"transcript": "NM_001387157.1",
"protein_id": "NP_001374086.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 461,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387157.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Ala291Thr",
"transcript": "ENST00000931431.1",
"protein_id": "ENSP00000601490.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 361,
"cds_start": 871,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931431.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.415G>A",
"hgvs_p": "p.Ala139Thr",
"transcript": "ENST00000619835.4",
"protein_id": "ENSP00000482489.2",
"transcript_support_level": 3,
"aa_start": 139,
"aa_end": null,
"aa_length": 209,
"cds_start": 415,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619835.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1429G>A",
"hgvs_p": "p.Ala477Thr",
"transcript": "XM_047438969.1",
"protein_id": "XP_047294925.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 552,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438969.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1423G>A",
"hgvs_p": "p.Ala475Thr",
"transcript": "XM_047438970.1",
"protein_id": "XP_047294926.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 550,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438970.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1408G>A",
"hgvs_p": "p.Ala470Thr",
"transcript": "XM_047438971.1",
"protein_id": "XP_047294927.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 545,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438971.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1408G>A",
"hgvs_p": "p.Ala470Thr",
"transcript": "XM_006722769.5",
"protein_id": "XP_006722832.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 540,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722769.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Ala439Thr",
"transcript": "XM_047438972.1",
"protein_id": "XP_047294928.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 514,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438972.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Ala439Thr",
"transcript": "XM_047438973.1",
"protein_id": "XP_047294929.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 514,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438973.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Ala439Thr",
"transcript": "XM_047438974.1",
"protein_id": "XP_047294930.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 514,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438974.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Ala439Thr",
"transcript": "XM_047438975.1",
"protein_id": "XP_047294931.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 514,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438975.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Ala439Thr",
"transcript": "XM_047438976.1",
"protein_id": "XP_047294932.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 514,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438976.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Ala439Thr",
"transcript": "XM_047438977.1",
"protein_id": "XP_047294933.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 514,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438977.1"
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Ala439Thr",
"transcript": "XM_047438978.1",
"protein_id": "XP_047294934.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 514,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438978.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Ala391Thr",
"transcript": "XM_047438979.1",
"protein_id": "XP_047294935.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 466,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438979.1"
}
],
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"dbsnp": "rs112462767",
"frequency_reference_population": 0.000030621326,
"hom_count_reference_population": 1,
"allele_count_reference_population": 49,
"gnomad_exomes_af": 0.0000165761,
"gnomad_genomes_af": 0.000164122,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 25,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.028872132301330566,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.058,
"revel_prediction": "Benign",
"alphamissense_score": 0.0687,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.184,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001387152.1",
"gene_symbol": "MIER2",
"hgnc_id": 29210,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1429G>A",
"hgvs_p": "p.Ala477Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}