← Back to variant description
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: 10-72408038-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=72408038&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 72408038,
"ref": "C",
"alt": "T",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "NM_001441218.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1072-1G>A",
"hgvs_p": null,
"transcript": "NM_001195518.2",
"protein_id": "NP_001182447.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361114.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195518.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1072-1G>A",
"hgvs_p": null,
"transcript": "ENST00000361114.10",
"protein_id": "ENSP00000354415.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001195518.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361114.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1303-1G>A",
"hgvs_p": null,
"transcript": "NM_001441218.1",
"protein_id": "NP_001428147.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 553,
"cds_start": null,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441218.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1303-1G>A",
"hgvs_p": null,
"transcript": "ENST00000964210.1",
"protein_id": "ENSP00000634269.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 553,
"cds_start": null,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964210.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1240-1G>A",
"hgvs_p": null,
"transcript": "NM_001441219.1",
"protein_id": "NP_001428148.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": null,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441219.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1240-1G>A",
"hgvs_p": null,
"transcript": "ENST00000897977.1",
"protein_id": "ENSP00000568036.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": null,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897977.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1126-1G>A",
"hgvs_p": null,
"transcript": "ENST00000964205.1",
"protein_id": "ENSP00000634264.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": null,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964205.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1114-1G>A",
"hgvs_p": null,
"transcript": "ENST00000964208.1",
"protein_id": "ENSP00000634267.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": null,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964208.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1105-1G>A",
"hgvs_p": null,
"transcript": "ENST00000964209.1",
"protein_id": "ENSP00000634268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": null,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964209.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1090-1G>A",
"hgvs_p": null,
"transcript": "NM_001363513.2",
"protein_id": "NP_001350442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 482,
"cds_start": null,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363513.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1090-1G>A",
"hgvs_p": null,
"transcript": "ENST00000642044.1",
"protein_id": "ENSP00000493232.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 482,
"cds_start": null,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642044.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1084-1G>A",
"hgvs_p": null,
"transcript": "ENST00000635239.1",
"protein_id": "ENSP00000489563.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": null,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635239.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1084-1G>A",
"hgvs_p": null,
"transcript": "ENST00000964207.1",
"protein_id": "ENSP00000634266.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": null,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964207.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1078-1G>A",
"hgvs_p": null,
"transcript": "NM_006077.4",
"protein_id": "NP_006068.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": null,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006077.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1072-1G>A",
"hgvs_p": null,
"transcript": "NM_001441220.1",
"protein_id": "NP_001428149.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441220.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1072-1G>A",
"hgvs_p": null,
"transcript": "NM_001441221.1",
"protein_id": "NP_001428150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441221.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1072-1G>A",
"hgvs_p": null,
"transcript": "NM_001441222.1",
"protein_id": "NP_001428151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441222.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1072-1G>A",
"hgvs_p": null,
"transcript": "NM_001441223.1",
"protein_id": "NP_001428152.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441223.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1072-1G>A",
"hgvs_p": null,
"transcript": "ENST00000897972.1",
"protein_id": "ENSP00000568031.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897972.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1072-1G>A",
"hgvs_p": null,
"transcript": "ENST00000897973.1",
"protein_id": "ENSP00000568032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897973.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1072-1G>A",
"hgvs_p": null,
"transcript": "ENST00000897974.1",
"protein_id": "ENSP00000568033.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897974.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1072-1G>A",
"hgvs_p": null,
"transcript": "ENST00000897976.1",
"protein_id": "ENSP00000568035.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897976.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1072-1G>A",
"hgvs_p": null,
"transcript": "ENST00000897978.1",
"protein_id": "ENSP00000568037.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897978.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1072-1G>A",
"hgvs_p": null,
"transcript": "ENST00000897979.1",
"protein_id": "ENSP00000568038.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897979.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1072-1G>A",
"hgvs_p": null,
"transcript": "ENST00000897981.1",
"protein_id": "ENSP00000568040.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897981.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1072-1G>A",
"hgvs_p": null,
"transcript": "ENST00000897982.1",
"protein_id": "ENSP00000568041.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897982.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1072-1G>A",
"hgvs_p": null,
"transcript": "ENST00000897984.1",
"protein_id": "ENSP00000568043.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897984.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1072-1G>A",
"hgvs_p": null,
"transcript": "ENST00000897985.1",
"protein_id": "ENSP00000568044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897985.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1072-1G>A",
"hgvs_p": null,
"transcript": "ENST00000897987.1",
"protein_id": "ENSP00000568046.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897987.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1072-1G>A",
"hgvs_p": null,
"transcript": "ENST00000964206.1",
"protein_id": "ENSP00000634265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": null,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964206.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1060-1G>A",
"hgvs_p": null,
"transcript": "NM_001441224.1",
"protein_id": "NP_001428153.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": null,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441224.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1060-1G>A",
"hgvs_p": null,
"transcript": "ENST00000964204.1",
"protein_id": "ENSP00000634263.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": null,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964204.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1072-1G>A",
"hgvs_p": null,
"transcript": "NM_001441225.1",
"protein_id": "NP_001428154.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": null,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441225.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1072-1G>A",
"hgvs_p": null,
"transcript": "ENST00000897980.1",
"protein_id": "ENSP00000568039.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": null,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897980.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1072-1G>A",
"hgvs_p": null,
"transcript": "ENST00000897986.1",
"protein_id": "ENSP00000568045.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": null,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897986.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.973-1G>A",
"hgvs_p": null,
"transcript": "NM_001441226.1",
"protein_id": "NP_001428155.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": null,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441226.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.961-1G>A",
"hgvs_p": null,
"transcript": "ENST00000964203.1",
"protein_id": "ENSP00000634262.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 439,
"cds_start": null,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964203.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.949-1G>A",
"hgvs_p": null,
"transcript": "NM_001441227.1",
"protein_id": "NP_001428156.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 435,
"cds_start": null,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441227.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.949-1G>A",
"hgvs_p": null,
"transcript": "ENST00000897983.1",
"protein_id": "ENSP00000568042.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 435,
"cds_start": null,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897983.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.946-1G>A",
"hgvs_p": null,
"transcript": "ENST00000964211.1",
"protein_id": "ENSP00000634270.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": null,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964211.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.739-1G>A",
"hgvs_p": null,
"transcript": "NM_001441228.1",
"protein_id": "NP_001428157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 365,
"cds_start": null,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441228.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.676-1G>A",
"hgvs_p": null,
"transcript": "NM_001441229.1",
"protein_id": "NP_001428158.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441229.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.676-1G>A",
"hgvs_p": null,
"transcript": "ENST00000897975.1",
"protein_id": "ENSP00000568034.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897975.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.577-1G>A",
"hgvs_p": null,
"transcript": "NM_001441230.1",
"protein_id": "NP_001428159.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": null,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441230.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.478-1G>A",
"hgvs_p": null,
"transcript": "NM_001195519.2",
"protein_id": "NP_001182448.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": null,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195519.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.478-1G>A",
"hgvs_p": null,
"transcript": "NM_001441231.1",
"protein_id": "NP_001428160.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": null,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441231.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.478-1G>A",
"hgvs_p": null,
"transcript": "ENST00000398763.8",
"protein_id": "ENSP00000381747.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": null,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398763.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.478-1G>A",
"hgvs_p": null,
"transcript": "ENST00000418483.6",
"protein_id": "ENSP00000402470.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": null,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418483.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.388-1G>A",
"hgvs_p": null,
"transcript": "NM_001441232.1",
"protein_id": "NP_001428161.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": null,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441232.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.388-1G>A",
"hgvs_p": null,
"transcript": "NM_001441233.1",
"protein_id": "NP_001428162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": null,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441233.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "c.1240-1G>A",
"hgvs_p": null,
"transcript": "XM_047424440.1",
"protein_id": "XP_047280396.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 459,
"cds_start": null,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424440.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "n.598-1G>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000476605.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "n.1143-1G>A",
"hgvs_p": null,
"transcript": "NR_199809.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_199809.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "n.1141-1G>A",
"hgvs_p": null,
"transcript": "NR_199810.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_199810.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"hgvs_c": "n.1143-1G>A",
"hgvs_p": null,
"transcript": "NR_199811.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_199811.1"
}
],
"gene_symbol": "MICU1",
"gene_hgnc_id": 1530,
"dbsnp": "rs754639936",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.41999998688697815,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.9359999895095825,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.689,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 1,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999985532734767,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001441218.1",
"gene_symbol": "MICU1",
"hgnc_id": 1530,
"effects": [
"splice_acceptor_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1303-1G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}