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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: 19-307171-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=307171&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 307171,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001387152.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"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.1564G>C",
"hgvs_p": "p.Ala522Pro",
"transcript": "NM_017550.3",
"protein_id": "NP_060020.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 545,
"cds_start": 1564,
"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": "P",
"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.1564G>C",
"hgvs_p": "p.Ala522Pro",
"transcript": "ENST00000264819.7",
"protein_id": "ENSP00000264819.3",
"transcript_support_level": 1,
"aa_start": 522,
"aa_end": null,
"aa_length": 545,
"cds_start": 1564,
"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": "P",
"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.1570G>C",
"hgvs_p": "p.Ala524Pro",
"transcript": "NM_001387152.1",
"protein_id": "NP_001374081.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 547,
"cds_start": 1570,
"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": "P",
"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.1543G>C",
"hgvs_p": "p.Ala515Pro",
"transcript": "NM_001387153.1",
"protein_id": "NP_001374082.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 538,
"cds_start": 1543,
"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": "P",
"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.1471G>C",
"hgvs_p": "p.Ala491Pro",
"transcript": "ENST00000931432.1",
"protein_id": "ENSP00000601491.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 514,
"cds_start": 1471,
"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": "P",
"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.1456G>C",
"hgvs_p": "p.Ala486Pro",
"transcript": "NM_001346105.2",
"protein_id": "NP_001333034.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 509,
"cds_start": 1456,
"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": "P",
"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.1456G>C",
"hgvs_p": "p.Ala486Pro",
"transcript": "NM_001387155.1",
"protein_id": "NP_001374084.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 509,
"cds_start": 1456,
"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": "P",
"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.1438G>C",
"hgvs_p": "p.Ala480Pro",
"transcript": "ENST00000871288.1",
"protein_id": "ENSP00000541347.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 503,
"cds_start": 1438,
"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": "P",
"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.1435G>C",
"hgvs_p": "p.Ala479Pro",
"transcript": "NM_001387154.1",
"protein_id": "NP_001374083.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 502,
"cds_start": 1435,
"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": "P",
"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.1330G>C",
"hgvs_p": "p.Ala444Pro",
"transcript": "ENST00000871287.1",
"protein_id": "ENSP00000541346.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 467,
"cds_start": 1330,
"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": "P",
"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.1312G>C",
"hgvs_p": "p.Ala438Pro",
"transcript": "NM_001387156.1",
"protein_id": "NP_001374085.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 461,
"cds_start": 1312,
"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": "P",
"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.1312G>C",
"hgvs_p": "p.Ala438Pro",
"transcript": "NM_001387157.1",
"protein_id": "NP_001374086.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 461,
"cds_start": 1312,
"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": "P",
"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.1012G>C",
"hgvs_p": "p.Ala338Pro",
"transcript": "ENST00000931431.1",
"protein_id": "ENSP00000601490.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 361,
"cds_start": 1012,
"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": "P",
"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.556G>C",
"hgvs_p": "p.Ala186Pro",
"transcript": "ENST00000619835.4",
"protein_id": "ENSP00000482489.2",
"transcript_support_level": 3,
"aa_start": 186,
"aa_end": null,
"aa_length": 209,
"cds_start": 556,
"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": "P",
"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.1570G>C",
"hgvs_p": "p.Ala524Pro",
"transcript": "XM_047438969.1",
"protein_id": "XP_047294925.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 552,
"cds_start": 1570,
"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": "P",
"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.1564G>C",
"hgvs_p": "p.Ala522Pro",
"transcript": "XM_047438970.1",
"protein_id": "XP_047294926.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 550,
"cds_start": 1564,
"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": "P",
"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.1549G>C",
"hgvs_p": "p.Ala517Pro",
"transcript": "XM_047438971.1",
"protein_id": "XP_047294927.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 545,
"cds_start": 1549,
"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": "P",
"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.1549G>C",
"hgvs_p": "p.Ala517Pro",
"transcript": "XM_006722769.5",
"protein_id": "XP_006722832.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 540,
"cds_start": 1549,
"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": "P",
"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.1456G>C",
"hgvs_p": "p.Ala486Pro",
"transcript": "XM_047438972.1",
"protein_id": "XP_047294928.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 514,
"cds_start": 1456,
"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": "P",
"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.1456G>C",
"hgvs_p": "p.Ala486Pro",
"transcript": "XM_047438973.1",
"protein_id": "XP_047294929.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 514,
"cds_start": 1456,
"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": "P",
"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.1456G>C",
"hgvs_p": "p.Ala486Pro",
"transcript": "XM_047438974.1",
"protein_id": "XP_047294930.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 514,
"cds_start": 1456,
"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": "P",
"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.1456G>C",
"hgvs_p": "p.Ala486Pro",
"transcript": "XM_047438975.1",
"protein_id": "XP_047294931.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 514,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}