← 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: 22-20564628-C-CCAGCAGCAGCAGCAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=20564628&ref=C&alt=CCAGCAGCAGCAGCAG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 20564628,
"ref": "C",
"alt": "CCAGCAGCAGCAGCAG",
"effect": "disruptive_inframe_insertion",
"transcript": "NM_001003891.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "NM_001003891.3",
"protein_id": "NP_001003891.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 788,
"cds_start": 657,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263205.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003891.3"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "ENST00000263205.11",
"protein_id": "ENSP00000263205.7",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 788,
"cds_start": 657,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001003891.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263205.11"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "ENST00000292733.11",
"protein_id": "ENSP00000292733.7",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 748,
"cds_start": 657,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292733.11"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.564_578dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln188_Gln192dup",
"transcript": "ENST00000406969.5",
"protein_id": "ENSP00000384344.1",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 722,
"cds_start": 579,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406969.5"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.429_443dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln143_Gln147dup",
"transcript": "ENST00000382974.6",
"protein_id": "ENSP00000372434.2",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 677,
"cds_start": 444,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382974.6"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "ENST00000853225.1",
"protein_id": "ENSP00000523284.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 816,
"cds_start": 657,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853225.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "ENST00000853226.1",
"protein_id": "ENSP00000523285.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 805,
"cds_start": 657,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853226.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "ENST00000954416.1",
"protein_id": "ENSP00000624475.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 805,
"cds_start": 657,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954416.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "ENST00000853221.1",
"protein_id": "ENSP00000523280.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 793,
"cds_start": 657,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853221.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "ENST00000853223.1",
"protein_id": "ENSP00000523282.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 787,
"cds_start": 657,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853223.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "ENST00000853215.1",
"protein_id": "ENSP00000523274.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 780,
"cds_start": 657,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853215.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "ENST00000954418.1",
"protein_id": "ENSP00000624477.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 779,
"cds_start": 657,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954418.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.612_626dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln204_Gln208dup",
"transcript": "ENST00000912867.1",
"protein_id": "ENSP00000582926.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 778,
"cds_start": 627,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912867.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "ENST00000853217.1",
"protein_id": "ENSP00000523276.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 772,
"cds_start": 657,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853217.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "ENST00000853219.1",
"protein_id": "ENSP00000523278.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 771,
"cds_start": 657,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853219.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.612_626dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln204_Gln208dup",
"transcript": "ENST00000912869.1",
"protein_id": "ENSP00000582928.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 762,
"cds_start": 627,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912869.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "ENST00000954419.1",
"protein_id": "ENSP00000624478.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 759,
"cds_start": 657,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954419.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "NM_015889.5",
"protein_id": "NP_056973.2",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 748,
"cds_start": 657,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015889.5"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "ENST00000853220.1",
"protein_id": "ENSP00000523279.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 739,
"cds_start": 657,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853220.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.612_626dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln204_Gln208dup",
"transcript": "ENST00000954415.1",
"protein_id": "ENSP00000624474.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 738,
"cds_start": 627,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954415.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "ENST00000853218.1",
"protein_id": "ENSP00000523277.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 732,
"cds_start": 657,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853218.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "NM_001293234.2",
"protein_id": "NP_001280163.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 731,
"cds_start": 657,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293234.2"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "ENST00000853213.1",
"protein_id": "ENSP00000523272.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 731,
"cds_start": 657,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853213.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "ENST00000954420.1",
"protein_id": "ENSP00000624479.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 728,
"cds_start": 657,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954420.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.564_578dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln188_Gln192dup",
"transcript": "NM_001293235.2",
"protein_id": "NP_001280164.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 722,
"cds_start": 579,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293235.2"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.564_578dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln188_Gln192dup",
"transcript": "NM_001293237.2",
"protein_id": "NP_001280166.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 722,
"cds_start": 579,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293237.2"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.429_443dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln143_Gln147dup",
"transcript": "ENST00000853212.1",
"protein_id": "ENSP00000523271.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 717,
"cds_start": 444,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853212.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.399_413dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln133_Gln137dup",
"transcript": "ENST00000853224.1",
"protein_id": "ENSP00000523283.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 707,
"cds_start": 414,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853224.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "ENST00000853214.1",
"protein_id": "ENSP00000523273.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 704,
"cds_start": 657,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853214.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.429_443dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln143_Gln147dup",
"transcript": "NM_001293236.2",
"protein_id": "NP_001280165.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 677,
"cds_start": 444,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293236.2"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "ENST00000853210.1",
"protein_id": "ENSP00000523269.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 671,
"cds_start": 657,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853210.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.399_413dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln133_Gln137dup",
"transcript": "ENST00000853211.1",
"protein_id": "ENSP00000523270.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 667,
"cds_start": 414,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853211.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.429_443dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln143_Gln147dup",
"transcript": "ENST00000912870.1",
"protein_id": "ENSP00000582929.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 661,
"cds_start": 444,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912870.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.399_413dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln133_Gln137dup",
"transcript": "ENST00000912868.1",
"protein_id": "ENSP00000582927.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 650,
"cds_start": 414,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912868.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.342_356dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln114_Gln118dup",
"transcript": "ENST00000853222.1",
"protein_id": "ENSP00000523281.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 648,
"cds_start": 357,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853222.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "ENST00000853216.1",
"protein_id": "ENSP00000523275.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 631,
"cds_start": 657,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853216.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "ENST00000954417.1",
"protein_id": "ENSP00000624476.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 614,
"cds_start": 657,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954417.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.462_476dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln154_Gln158dup",
"transcript": "ENST00000423862.5",
"protein_id": "ENSP00000408875.1",
"transcript_support_level": 3,
"aa_start": 159,
"aa_end": null,
"aa_length": 192,
"cds_start": 477,
"cds_end": null,
"cds_length": 580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423862.5"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.564_578dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln188_Gln192dup",
"transcript": "XM_047441395.1",
"protein_id": "XP_047297351.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 762,
"cds_start": 579,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441395.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.564_578dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln188_Gln192dup",
"transcript": "XM_047441396.1",
"protein_id": "XP_047297352.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 762,
"cds_start": 579,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441396.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.501_515dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln167_Gln171dup",
"transcript": "XM_047441397.1",
"protein_id": "XP_047297353.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 741,
"cds_start": 516,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441397.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.564_578dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln188_Gln192dup",
"transcript": "XM_047441398.1",
"protein_id": "XP_047297354.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 722,
"cds_start": 579,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441398.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.429_443dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln143_Gln147dup",
"transcript": "XM_047441399.1",
"protein_id": "XP_047297355.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 717,
"cds_start": 444,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441399.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.399_413dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln133_Gln137dup",
"transcript": "XM_047441402.1",
"protein_id": "XP_047297358.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 707,
"cds_start": 414,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441402.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.501_515dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln167_Gln171dup",
"transcript": "XM_047441400.1",
"protein_id": "XP_047297356.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 701,
"cds_start": 516,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441400.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.351_365dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln117_Gln121dup",
"transcript": "XM_047441401.1",
"protein_id": "XP_047297357.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 691,
"cds_start": 366,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441401.1"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "XM_017028821.3",
"protein_id": "XP_016884310.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 520,
"cds_start": 657,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028821.3"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "XM_011530218.4",
"protein_id": "XP_011528520.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 411,
"cds_start": 657,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530218.4"
},
{
"aa_ref": "H",
"aa_alt": "QQQQQH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup",
"transcript": "XM_011530219.3",
"protein_id": "XP_011528521.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 406,
"cds_start": 657,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530219.3"
},
{
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.145-1989_145-1975dupGCAGCAGCAGCAGCA",
"hgvs_p": null,
"transcript": "ENST00000912866.1",
"protein_id": "ENSP00000582925.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 512,
"cds_start": null,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912866.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "n.*485_*499dupGCAGCAGCAGCAGCA",
"hgvs_p": null,
"transcript": "ENST00000433831.5",
"protein_id": "ENSP00000391108.1",
"transcript_support_level": 5,
"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": "ENST00000433831.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "n.482_496dupGCAGCAGCAGCAGCA",
"hgvs_p": null,
"transcript": "ENST00000476767.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "retained_intron",
"feature": "ENST00000476767.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "n.515_529dupGCAGCAGCAGCAGCA",
"hgvs_p": null,
"transcript": "ENST00000487550.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000487550.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "n.1101_1115dupGCAGCAGCAGCAGCA",
"hgvs_p": null,
"transcript": "ENST00000492381.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000492381.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307622",
"gene_hgnc_id": null,
"hgvs_c": "n.612_626dupCTGCTGCTGCTGCTG",
"hgvs_p": null,
"transcript": "ENST00000827503.1",
"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": "ENST00000827503.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307622",
"gene_hgnc_id": null,
"hgvs_c": "n.135_149dupCTGCTGCTGCTGCTG",
"hgvs_p": null,
"transcript": "ENST00000827504.1",
"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": "ENST00000827504.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "n.*485_*499dupGCAGCAGCAGCAGCA",
"hgvs_p": null,
"transcript": "ENST00000433831.5",
"protein_id": "ENSP00000391108.1",
"transcript_support_level": 5,
"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": "ENST00000433831.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.*31_*32insCAGCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000457322.5",
"protein_id": "ENSP00000415778.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": null,
"cds_end": null,
"cds_length": 482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457322.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.*128_*129insCAGCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000414658.5",
"protein_id": "ENSP00000392738.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": null,
"cds_end": null,
"cds_length": 424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414658.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.*22_*23insCAGCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000432052.5",
"protein_id": "ENSP00000408794.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 104,
"cds_start": null,
"cds_end": null,
"cds_length": 317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432052.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.*30_*31insCAGCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000428629.5",
"protein_id": "ENSP00000413603.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 81,
"cds_start": null,
"cds_end": null,
"cds_length": 246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428629.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "n.*548_*549insCAGCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000441501.5",
"protein_id": "ENSP00000413636.1",
"transcript_support_level": 3,
"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": "ENST00000441501.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "n.*383_*384insCAGCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000444094.5",
"protein_id": "ENSP00000409578.1",
"transcript_support_level": 4,
"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": "ENST00000444094.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "n.*4_*5insCAGCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000473028.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000473028.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "n.*162_*163insCAGCAGCAGCAGCAG",
"hgvs_p": null,
"transcript": "ENST00000477824.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000477824.5"
}
],
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"dbsnp": "rs374794651",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.481,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP3"
],
"verdict": "Likely_benign",
"transcript": "NM_001003891.3",
"gene_symbol": "MED15",
"hgnc_id": 14248,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.642_656dupGCAGCAGCAGCAGCA",
"hgvs_p": "p.Gln214_Gln218dup"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000827503.1",
"gene_symbol": "ENSG00000307622",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.612_626dupCTGCTGCTGCTGCTG",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}