← 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: 14-39320945-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=39320945&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 39320945,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000640607.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.3385C>T",
"hgvs_p": "p.Pro1129Ser",
"transcript": "NM_001329214.4",
"protein_id": "NP_001316143.1",
"transcript_support_level": null,
"aa_start": 1129,
"aa_end": null,
"aa_length": 1412,
"cds_start": 3385,
"cds_end": null,
"cds_length": 4239,
"cdna_start": 3585,
"cdna_end": null,
"cdna_length": 4869,
"mane_select": "ENST00000640607.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.3385C>T",
"hgvs_p": "p.Pro1129Ser",
"transcript": "ENST00000640607.2",
"protein_id": "ENSP00000491014.1",
"transcript_support_level": 1,
"aa_start": 1129,
"aa_end": null,
"aa_length": 1412,
"cds_start": 3385,
"cds_end": null,
"cds_length": 4239,
"cdna_start": 3585,
"cdna_end": null,
"cdna_length": 4869,
"mane_select": "NM_001329214.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1576C>T",
"hgvs_p": "p.Pro526Ser",
"transcript": "ENST00000396158.6",
"protein_id": "ENSP00000379462.2",
"transcript_support_level": 1,
"aa_start": 526,
"aa_end": null,
"aa_length": 809,
"cds_start": 1576,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 1912,
"cdna_end": null,
"cdna_length": 3695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1561C>T",
"hgvs_p": "p.Pro521Ser",
"transcript": "ENST00000280083.7",
"protein_id": "ENSP00000280083.3",
"transcript_support_level": 1,
"aa_start": 521,
"aa_end": null,
"aa_length": 804,
"cds_start": 1561,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 1875,
"cdna_end": null,
"cdna_length": 3860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Pro509Ser",
"transcript": "ENST00000341749.7",
"protein_id": "ENSP00000343897.3",
"transcript_support_level": 1,
"aa_start": 509,
"aa_end": null,
"aa_length": 792,
"cds_start": 1525,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Pro492Ser",
"transcript": "ENST00000396165.8",
"protein_id": "ENSP00000379468.4",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 775,
"cds_start": 1474,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2058,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Pro492Ser",
"transcript": "ENST00000553352.1",
"protein_id": "ENSP00000450449.1",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 775,
"cds_start": 1474,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2206,
"cdna_end": null,
"cdna_length": 3441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1561C>T",
"hgvs_p": "p.Pro521Ser",
"transcript": "ENST00000341502.9",
"protein_id": "ENSP00000339286.5",
"transcript_support_level": 1,
"aa_start": 521,
"aa_end": null,
"aa_length": 771,
"cds_start": 1561,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 1775,
"cdna_end": null,
"cdna_length": 4091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Pro446Ser",
"transcript": "ENST00000556148.5",
"protein_id": "ENSP00000452562.1",
"transcript_support_level": 1,
"aa_start": 446,
"aa_end": null,
"aa_length": 729,
"cds_start": 1336,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1515,
"cdna_end": null,
"cdna_length": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1321C>T",
"hgvs_p": "p.Pro441Ser",
"transcript": "ENST00000557038.5",
"protein_id": "ENSP00000450869.1",
"transcript_support_level": 1,
"aa_start": 441,
"aa_end": null,
"aa_length": 724,
"cds_start": 1321,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1589,
"cdna_end": null,
"cdna_length": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1543+1654C>T",
"hgvs_p": null,
"transcript": "ENST00000348007.7",
"protein_id": "ENSP00000343912.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": -4,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.3166C>T",
"hgvs_p": "p.Pro1056Ser",
"transcript": "ENST00000553728.1",
"protein_id": "ENSP00000452252.1",
"transcript_support_level": 5,
"aa_start": 1056,
"aa_end": null,
"aa_length": 1339,
"cds_start": 3166,
"cds_end": null,
"cds_length": 4020,
"cdna_start": 3379,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1588C>T",
"hgvs_p": "p.Pro530Ser",
"transcript": "NM_001354151.2",
"protein_id": "NP_001341080.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 813,
"cds_start": 1588,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 3657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1576C>T",
"hgvs_p": "p.Pro526Ser",
"transcript": "NM_001247989.2",
"protein_id": "NP_001234918.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 809,
"cds_start": 1576,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 3645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1561C>T",
"hgvs_p": "p.Pro521Ser",
"transcript": "NM_005930.4",
"protein_id": "NP_005921.2",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 804,
"cds_start": 1561,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1543C>T",
"hgvs_p": "p.Pro515Ser",
"transcript": "NM_001354150.2",
"protein_id": "NP_001341079.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 798,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1559,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Pro509Ser",
"transcript": "NM_203354.3",
"protein_id": "NP_976229.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 792,
"cds_start": 1525,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 3623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1483C>T",
"hgvs_p": "p.Pro495Ser",
"transcript": "NM_001354157.2",
"protein_id": "NP_001341086.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 778,
"cds_start": 1483,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 3552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Pro492Ser",
"transcript": "NM_001354137.2",
"protein_id": "NP_001341066.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 775,
"cds_start": 1474,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 3610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Pro492Ser",
"transcript": "NM_001354138.1",
"protein_id": "NP_001341067.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 775,
"cds_start": 1474,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 3347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Pro492Ser",
"transcript": "NM_203356.2",
"protein_id": "NP_976231.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 775,
"cds_start": 1474,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 3511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1561C>T",
"hgvs_p": "p.Pro521Ser",
"transcript": "NM_001354154.2",
"protein_id": "NP_001341083.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 771,
"cds_start": 1561,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Pro466Ser",
"transcript": "NM_001354147.1",
"protein_id": "NP_001341076.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 749,
"cds_start": 1396,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1474C>T",
"hgvs_p": "p.Pro492Ser",
"transcript": "NM_001354148.1",
"protein_id": "NP_001341077.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 742,
"cds_start": 1474,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 4044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Pro446Ser",
"transcript": "NM_001247990.2",
"protein_id": "NP_001234919.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 729,
"cds_start": 1336,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1321C>T",
"hgvs_p": "p.Pro441Ser",
"transcript": "NM_001354140.2",
"protein_id": "NP_001341069.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 724,
"cds_start": 1321,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 3601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1321C>T",
"hgvs_p": "p.Pro441Ser",
"transcript": "NM_001354141.2",
"protein_id": "NP_001341070.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 724,
"cds_start": 1321,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1526,
"cdna_end": null,
"cdna_length": 3520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Pro415Ser",
"transcript": "NM_001354156.2",
"protein_id": "NP_001341085.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 698,
"cds_start": 1243,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.3427C>T",
"hgvs_p": "p.Pro1143Ser",
"transcript": "XM_024449592.2",
"protein_id": "XP_024305360.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3427,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 3627,
"cdna_end": null,
"cdna_length": 5621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.3412C>T",
"hgvs_p": "p.Pro1138Ser",
"transcript": "XM_024449593.2",
"protein_id": "XP_024305361.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1421,
"cds_start": 3412,
"cds_end": null,
"cds_length": 4266,
"cdna_start": 3612,
"cdna_end": null,
"cdna_length": 5606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.3400C>T",
"hgvs_p": "p.Pro1134Ser",
"transcript": "XM_024449594.2",
"protein_id": "XP_024305362.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3400,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3600,
"cdna_end": null,
"cdna_length": 5594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.3103C>T",
"hgvs_p": "p.Pro1035Ser",
"transcript": "XM_047431399.1",
"protein_id": "XP_047287355.1",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1318,
"cds_start": 3103,
"cds_end": null,
"cds_length": 3957,
"cdna_start": 3493,
"cdna_end": null,
"cdna_length": 5487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.3427C>T",
"hgvs_p": "p.Pro1143Ser",
"transcript": "XM_024449597.2",
"protein_id": "XP_024305365.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1201,
"cds_start": 3427,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 3627,
"cdna_end": null,
"cdna_length": 4879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.3400C>T",
"hgvs_p": "p.Pro1134Ser",
"transcript": "XM_047431401.1",
"protein_id": "XP_047287357.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1192,
"cds_start": 3400,
"cds_end": null,
"cds_length": 3579,
"cdna_start": 3600,
"cdna_end": null,
"cdna_length": 4852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1603C>T",
"hgvs_p": "p.Pro535Ser",
"transcript": "XM_017021314.2",
"protein_id": "XP_016876803.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 818,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 1678,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1585C>T",
"hgvs_p": "p.Pro529Ser",
"transcript": "XM_017021315.3",
"protein_id": "XP_016876804.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 812,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 1601,
"cdna_end": null,
"cdna_length": 3595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1567C>T",
"hgvs_p": "p.Pro523Ser",
"transcript": "XM_017021316.2",
"protein_id": "XP_016876805.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 806,
"cds_start": 1567,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1671,
"cdna_end": null,
"cdna_length": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Pro518Ser",
"transcript": "XM_011536778.3",
"protein_id": "XP_011535080.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 801,
"cds_start": 1552,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 1656,
"cdna_end": null,
"cdna_length": 3650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1540C>T",
"hgvs_p": "p.Pro514Ser",
"transcript": "XM_047431403.1",
"protein_id": "XP_047287359.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 797,
"cds_start": 1540,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 3638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Pro506Ser",
"transcript": "XM_017021317.3",
"protein_id": "XP_016876806.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 789,
"cds_start": 1516,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Pro506Ser",
"transcript": "XM_017021318.2",
"protein_id": "XP_016876807.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 789,
"cds_start": 1516,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Pro506Ser",
"transcript": "XM_017021319.2",
"protein_id": "XP_016876808.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 789,
"cds_start": 1516,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Pro506Ser",
"transcript": "XM_017021330.2",
"protein_id": "XP_016876819.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 789,
"cds_start": 1516,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1501C>T",
"hgvs_p": "p.Pro501Ser",
"transcript": "XM_047431405.1",
"protein_id": "XP_047287361.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 784,
"cds_start": 1501,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 1591,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1489C>T",
"hgvs_p": "p.Pro497Ser",
"transcript": "XM_047431406.1",
"protein_id": "XP_047287362.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 780,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 3573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Pro455Ser",
"transcript": "XM_017021323.2",
"protein_id": "XP_016876812.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 738,
"cds_start": 1363,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 3562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Pro455Ser",
"transcript": "XM_017021324.3",
"protein_id": "XP_016876813.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 738,
"cds_start": 1363,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 3555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Pro455Ser",
"transcript": "XM_024449598.2",
"protein_id": "XP_024305366.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 738,
"cds_start": 1363,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1660,
"cdna_end": null,
"cdna_length": 3654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Pro455Ser",
"transcript": "XM_047431410.1",
"protein_id": "XP_047287366.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 738,
"cds_start": 1363,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 3490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1561C>T",
"hgvs_p": "p.Pro521Ser",
"transcript": "XM_047431412.1",
"protein_id": "XP_047287368.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 579,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 2881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "n.1672C>T",
"hgvs_p": null,
"transcript": "NR_148722.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "n.1562C>T",
"hgvs_p": null,
"transcript": "NR_148723.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1570+1654C>T",
"hgvs_p": null,
"transcript": "NM_001354152.3",
"protein_id": "NP_001341081.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 770,
"cds_start": -4,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1543+1654C>T",
"hgvs_p": null,
"transcript": "NM_203355.3",
"protein_id": "NP_976230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": -4,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1507+1654C>T",
"hgvs_p": null,
"transcript": "NM_001354146.2",
"protein_id": "NP_001341075.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 749,
"cds_start": -4,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1465+1654C>T",
"hgvs_p": null,
"transcript": "NM_001354153.2",
"protein_id": "NP_001341082.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 735,
"cds_start": -4,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1456+1654C>T",
"hgvs_p": null,
"transcript": "NM_001247988.1",
"protein_id": "NP_001234917.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": -4,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1456+1654C>T",
"hgvs_p": null,
"transcript": "NM_001354139.2",
"protein_id": "NP_001341068.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": -4,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1543+1654C>T",
"hgvs_p": null,
"transcript": "NM_001354155.2",
"protein_id": "NP_001341084.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 728,
"cds_start": -4,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1378+1654C>T",
"hgvs_p": null,
"transcript": "NM_001354149.1",
"protein_id": "NP_001341078.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 706,
"cds_start": -4,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1303+1654C>T",
"hgvs_p": null,
"transcript": "NM_001354142.1",
"protein_id": "NP_001341071.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1303+1654C>T",
"hgvs_p": null,
"transcript": "NM_001354143.1",
"protein_id": "NP_001341072.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1303+1654C>T",
"hgvs_p": null,
"transcript": "NM_001354144.2",
"protein_id": "NP_001341073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1303+1654C>T",
"hgvs_p": null,
"transcript": "NM_001354145.2",
"protein_id": "NP_001341074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": -4,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "n.1746+1654C>T",
"hgvs_p": null,
"transcript": "NR_148721.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.3409+1654C>T",
"hgvs_p": null,
"transcript": "XM_024449595.2",
"protein_id": "XP_024305363.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1383,
"cds_start": -4,
"cds_end": null,
"cds_length": 4152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.3382+1654C>T",
"hgvs_p": null,
"transcript": "XM_047431398.1",
"protein_id": "XP_047287354.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1374,
"cds_start": -4,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.3367+1654C>T",
"hgvs_p": null,
"transcript": "XM_024449596.2",
"protein_id": "XP_024305364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1369,
"cds_start": -4,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1558+1654C>T",
"hgvs_p": null,
"transcript": "XM_047431407.1",
"protein_id": "XP_047287363.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 766,
"cds_start": -4,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1525+1654C>T",
"hgvs_p": null,
"transcript": "XM_047431408.1",
"protein_id": "XP_047287364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 755,
"cds_start": -4,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1522+1654C>T",
"hgvs_p": null,
"transcript": "XM_047431409.1",
"protein_id": "XP_047287365.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 754,
"cds_start": -4,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"hgvs_c": "c.1456+1654C>T",
"hgvs_p": null,
"transcript": "XM_047431411.1",
"protein_id": "XP_047287367.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": -4,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MIA2",
"gene_hgnc_id": 18432,
"dbsnp": "rs36060072",
"frequency_reference_population": 0.000030990723,
"hom_count_reference_population": 1,
"allele_count_reference_population": 50,
"gnomad_exomes_af": 0.0000328518,
"gnomad_genomes_af": 0.0000131339,
"gnomad_exomes_ac": 48,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.227396160364151,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.277,
"revel_prediction": "Benign",
"alphamissense_score": 0.2209,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.508,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000640607.2",
"gene_symbol": "MIA2",
"hgnc_id": 18432,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3385C>T",
"hgvs_p": "p.Pro1129Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}