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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: 19-306704-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=306704&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 306704,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001387152.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1624G>A",
"hgvs_p": "p.Val542Met",
"transcript": "NM_017550.3",
"protein_id": "NP_060020.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 545,
"cds_start": 1624,
"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": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1624G>A",
"hgvs_p": "p.Val542Met",
"transcript": "ENST00000264819.7",
"protein_id": "ENSP00000264819.3",
"transcript_support_level": 1,
"aa_start": 542,
"aa_end": null,
"aa_length": 545,
"cds_start": 1624,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Met",
"transcript": "NM_001387152.1",
"protein_id": "NP_001374081.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 547,
"cds_start": 1630,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Val535Met",
"transcript": "NM_001387153.1",
"protein_id": "NP_001374082.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 538,
"cds_start": 1603,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1531G>A",
"hgvs_p": "p.Val511Met",
"transcript": "ENST00000931432.1",
"protein_id": "ENSP00000601491.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 514,
"cds_start": 1531,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1516G>A",
"hgvs_p": "p.Val506Met",
"transcript": "NM_001346105.2",
"protein_id": "NP_001333034.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 509,
"cds_start": 1516,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1516G>A",
"hgvs_p": "p.Val506Met",
"transcript": "NM_001387155.1",
"protein_id": "NP_001374084.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 509,
"cds_start": 1516,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Val500Met",
"transcript": "ENST00000871288.1",
"protein_id": "ENSP00000541347.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 503,
"cds_start": 1498,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1495G>A",
"hgvs_p": "p.Val499Met",
"transcript": "NM_001387154.1",
"protein_id": "NP_001374083.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 502,
"cds_start": 1495,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1390G>A",
"hgvs_p": "p.Val464Met",
"transcript": "ENST00000871287.1",
"protein_id": "ENSP00000541346.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 467,
"cds_start": 1390,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Val458Met",
"transcript": "NM_001387156.1",
"protein_id": "NP_001374085.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 461,
"cds_start": 1372,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1372G>A",
"hgvs_p": "p.Val458Met",
"transcript": "NM_001387157.1",
"protein_id": "NP_001374086.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 461,
"cds_start": 1372,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1072G>A",
"hgvs_p": "p.Val358Met",
"transcript": "ENST00000931431.1",
"protein_id": "ENSP00000601490.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 361,
"cds_start": 1072,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Val206Met",
"transcript": "ENST00000619835.4",
"protein_id": "ENSP00000482489.2",
"transcript_support_level": 3,
"aa_start": 206,
"aa_end": null,
"aa_length": 209,
"cds_start": 616,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1645G>A",
"hgvs_p": "p.Val549Met",
"transcript": "XM_047438969.1",
"protein_id": "XP_047294925.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 552,
"cds_start": 1645,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1639G>A",
"hgvs_p": "p.Val547Met",
"transcript": "XM_047438970.1",
"protein_id": "XP_047294926.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 550,
"cds_start": 1639,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1624G>A",
"hgvs_p": "p.Val542Met",
"transcript": "XM_047438971.1",
"protein_id": "XP_047294927.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 545,
"cds_start": 1624,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1609G>A",
"hgvs_p": "p.Val537Met",
"transcript": "XM_006722769.5",
"protein_id": "XP_006722832.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 540,
"cds_start": 1609,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1531G>A",
"hgvs_p": "p.Val511Met",
"transcript": "XM_047438972.1",
"protein_id": "XP_047294928.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 514,
"cds_start": 1531,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1531G>A",
"hgvs_p": "p.Val511Met",
"transcript": "XM_047438973.1",
"protein_id": "XP_047294929.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 514,
"cds_start": 1531,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1531G>A",
"hgvs_p": "p.Val511Met",
"transcript": "XM_047438974.1",
"protein_id": "XP_047294930.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 514,
"cds_start": 1531,
"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": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER2",
"gene_hgnc_id": 29210,
"hgvs_c": "c.1531G>A",
"hgvs_p": "p.Val511Met",
"transcript": "XM_047438975.1",
"protein_id": "XP_047294931.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 514,
"cds_start": 1531,
"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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{
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{
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{
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],
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{
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],
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"biotype": "pseudogene",
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],
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"dbsnp": "rs1285352150",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000922894,
"gnomad_genomes_af": 0.0000262816,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.26127636432647705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.136,
"revel_prediction": "Benign",
"alphamissense_score": 0.302,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.033,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001387152.1",
"gene_symbol": "MIER2",
"hgnc_id": 29210,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Val544Met"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000591533.1",
"gene_symbol": "ENSG00000267124",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*237C>T",
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}
],
"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
}