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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: 10-72368347-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=72368347&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 72368347,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001195518.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1279G>A",
"hgvs_p": "p.Glu427Lys",
"transcript": "NM_001195518.2",
"protein_id": "NP_001182447.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 476,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 2357,
"mane_select": "ENST00000361114.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"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": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1279G>A",
"hgvs_p": "p.Glu427Lys",
"transcript": "ENST00000361114.10",
"protein_id": "ENSP00000354415.5",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 476,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 2357,
"mane_select": "NM_001195518.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1510G>A",
"hgvs_p": "p.Glu504Lys",
"transcript": "NM_001441218.1",
"protein_id": "NP_001428147.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 553,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 2588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Glu483Lys",
"transcript": "NM_001441219.1",
"protein_id": "NP_001428148.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 532,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1518,
"cdna_end": null,
"cdna_length": 2525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1297G>A",
"hgvs_p": "p.Glu433Lys",
"transcript": "NM_001363513.2",
"protein_id": "NP_001350442.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 482,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 2375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1297G>A",
"hgvs_p": "p.Glu433Lys",
"transcript": "ENST00000642044.1",
"protein_id": "ENSP00000493232.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 482,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1420,
"cdna_end": null,
"cdna_length": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Glu431Lys",
"transcript": "ENST00000635239.1",
"protein_id": "ENSP00000489563.1",
"transcript_support_level": 5,
"aa_start": 431,
"aa_end": null,
"aa_length": 480,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1285G>A",
"hgvs_p": "p.Glu429Lys",
"transcript": "NM_006077.4",
"protein_id": "NP_006068.2",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 478,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1279G>A",
"hgvs_p": "p.Glu427Lys",
"transcript": "NM_001441220.1",
"protein_id": "NP_001428149.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 476,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1279G>A",
"hgvs_p": "p.Glu427Lys",
"transcript": "NM_001441221.1",
"protein_id": "NP_001428150.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 476,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1279G>A",
"hgvs_p": "p.Glu427Lys",
"transcript": "NM_001441222.1",
"protein_id": "NP_001428151.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 476,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1444,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1279G>A",
"hgvs_p": "p.Glu427Lys",
"transcript": "NM_001441223.1",
"protein_id": "NP_001428152.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 476,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Glu423Lys",
"transcript": "NM_001441224.1",
"protein_id": "NP_001428153.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 472,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 2345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Glu397Lys",
"transcript": "NM_001441225.1",
"protein_id": "NP_001428154.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 446,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Glu394Lys",
"transcript": "NM_001441226.1",
"protein_id": "NP_001428155.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 443,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1156G>A",
"hgvs_p": "p.Glu386Lys",
"transcript": "NM_001441227.1",
"protein_id": "NP_001428156.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 435,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Glu316Lys",
"transcript": "NM_001441228.1",
"protein_id": "NP_001428157.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 365,
"cds_start": 946,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 2026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.883G>A",
"hgvs_p": "p.Glu295Lys",
"transcript": "NM_001441229.1",
"protein_id": "NP_001428158.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 344,
"cds_start": 883,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Glu262Lys",
"transcript": "NM_001441230.1",
"protein_id": "NP_001428159.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 311,
"cds_start": 784,
"cds_end": null,
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"cdna_start": 1604,
"cdna_end": null,
"cdna_length": 2611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Glu229Lys",
"transcript": "NM_001195519.2",
"protein_id": "NP_001182448.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 278,
"cds_start": 685,
"cds_end": null,
"cds_length": 837,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Glu229Lys",
"transcript": "NM_001441231.1",
"protein_id": "NP_001428160.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 278,
"cds_start": 685,
"cds_end": null,
"cds_length": 837,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 2468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Glu229Lys",
"transcript": "ENST00000398763.8",
"protein_id": "ENSP00000381747.4",
"transcript_support_level": 2,
"aa_start": 229,
"aa_end": null,
"aa_length": 278,
"cds_start": 685,
"cds_end": null,
"cds_length": 837,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 1224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.685G>A",
"hgvs_p": "p.Glu229Lys",
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"cds_length": 837,
"cdna_start": 779,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
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"exon_count": 8,
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"gene_symbol": "MICU1",
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"transcript": "NM_001441232.1",
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"cdna_start": 927,
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"feature": null
},
{
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"protein_coding": true,
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "MICU1",
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"hgvs_c": "c.595G>A",
"hgvs_p": "p.Glu199Lys",
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"cdna_start": 1235,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
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"hgvs_c": "n.*187G>A",
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"transcript": "ENST00000476605.7",
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
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"exon_count": 13,
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"gene_symbol": "MICU1",
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"transcript": "NR_199809.1",
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"cds_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
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"gene_symbol": "MICU1",
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"hgvs_c": "n.1348G>A",
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"transcript": "NR_199810.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
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"gene_symbol": "MICU1",
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"hgvs_c": "n.1470G>A",
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"transcript": "NR_199811.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "n.*187G>A",
"hgvs_p": null,
"transcript": "ENST00000476605.7",
"protein_id": "ENSP00000432492.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"dbsnp": "rs776805865",
"frequency_reference_population": 0.000036570687,
"hom_count_reference_population": 0,
"allele_count_reference_population": 59,
"gnomad_exomes_af": 0.0000362725,
"gnomad_genomes_af": 0.0000394342,
"gnomad_exomes_ac": 53,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.42732590436935425,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.359,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6401,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.879,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM1,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001195518.2",
"gene_symbol": "MICU1",
"hgnc_id": 1530,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1279G>A",
"hgvs_p": "p.Glu427Lys"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}