← 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: 2-237527481-TC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=237527481&ref=TC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 237527481,
"ref": "TC",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_024101.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.987delC",
"hgvs_p": "p.Lys330fs",
"transcript": "NM_024101.7",
"protein_id": "NP_077006.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 600,
"cds_start": 987,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": "ENST00000264605.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024101.7"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.987delC",
"hgvs_p": "p.Lys330fs",
"transcript": "ENST00000264605.8",
"protein_id": "ENSP00000264605.3",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 600,
"cds_start": 987,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": "NM_024101.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264605.8"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.987delC",
"hgvs_p": "p.Lys330fs",
"transcript": "ENST00000338530.8",
"protein_id": "ENSP00000341845.4",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 572,
"cds_start": 987,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 2332,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338530.8"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.867delC",
"hgvs_p": "p.Lys290fs",
"transcript": "ENST00000409373.5",
"protein_id": "ENSP00000386780.1",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 480,
"cds_start": 867,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 2031,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409373.5"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "n.1052delC",
"hgvs_p": null,
"transcript": "ENST00000464123.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000464123.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "n.1198delC",
"hgvs_p": null,
"transcript": "ENST00000468178.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1979,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000468178.5"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1119delC",
"hgvs_p": "p.Lys374fs",
"transcript": "ENST00000951150.1",
"protein_id": "ENSP00000621209.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 644,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 2460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951150.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1035delC",
"hgvs_p": "p.Lys346fs",
"transcript": "ENST00000872932.1",
"protein_id": "ENSP00000542991.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 616,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 2474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872932.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1119delC",
"hgvs_p": "p.Lys374fs",
"transcript": "ENST00000951143.1",
"protein_id": "ENSP00000621202.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 616,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 2445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951143.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1029delC",
"hgvs_p": "p.Lys344fs",
"transcript": "ENST00000951136.1",
"protein_id": "ENSP00000621195.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 614,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951136.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.987delC",
"hgvs_p": "p.Lys330fs",
"transcript": "ENST00000872925.1",
"protein_id": "ENSP00000542984.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 600,
"cds_start": 987,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 3727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872925.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.987delC",
"hgvs_p": "p.Lys330fs",
"transcript": "ENST00000951133.1",
"protein_id": "ENSP00000621192.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 600,
"cds_start": 987,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 2604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951133.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1035delC",
"hgvs_p": "p.Lys346fs",
"transcript": "ENST00000872934.1",
"protein_id": "ENSP00000542993.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 588,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 2380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872934.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1035delC",
"hgvs_p": "p.Lys346fs",
"transcript": "ENST00000951132.1",
"protein_id": "ENSP00000621191.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 588,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 2570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951132.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1029delC",
"hgvs_p": "p.Lys344fs",
"transcript": "ENST00000872935.1",
"protein_id": "ENSP00000542994.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 586,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 2359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872935.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1014delC",
"hgvs_p": "p.Lys339fs",
"transcript": "ENST00000951149.1",
"protein_id": "ENSP00000621208.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 581,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951149.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.915delC",
"hgvs_p": "p.Lys306fs",
"transcript": "ENST00000951140.1",
"protein_id": "ENSP00000621199.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 576,
"cds_start": 915,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 2338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951140.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.999delC",
"hgvs_p": "p.Lys334fs",
"transcript": "ENST00000951148.1",
"protein_id": "ENSP00000621207.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 576,
"cds_start": 999,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951148.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.987delC",
"hgvs_p": "p.Lys330fs",
"transcript": "NM_001042467.3",
"protein_id": "NP_001035932.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 572,
"cds_start": 987,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042467.3"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.987delC",
"hgvs_p": "p.Lys330fs",
"transcript": "ENST00000872928.1",
"protein_id": "ENSP00000542987.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 572,
"cds_start": 987,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 2523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872928.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.987delC",
"hgvs_p": "p.Lys330fs",
"transcript": "ENST00000872930.1",
"protein_id": "ENSP00000542989.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 572,
"cds_start": 987,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 2299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872930.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.987delC",
"hgvs_p": "p.Lys330fs",
"transcript": "ENST00000951128.1",
"protein_id": "ENSP00000621187.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 572,
"cds_start": 987,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951128.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.987delC",
"hgvs_p": "p.Lys330fs",
"transcript": "ENST00000951135.1",
"protein_id": "ENSP00000621194.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 572,
"cds_start": 987,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 2435,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951135.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.987delC",
"hgvs_p": "p.Lys330fs",
"transcript": "ENST00000951138.1",
"protein_id": "ENSP00000621197.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 572,
"cds_start": 987,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951138.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.987delC",
"hgvs_p": "p.Lys330fs",
"transcript": "ENST00000951141.1",
"protein_id": "ENSP00000621200.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 572,
"cds_start": 987,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951141.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.987delC",
"hgvs_p": "p.Lys330fs",
"transcript": "ENST00000951146.1",
"protein_id": "ENSP00000621205.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 572,
"cds_start": 987,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 2342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951146.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.981delC",
"hgvs_p": "p.Lys328fs",
"transcript": "ENST00000951151.1",
"protein_id": "ENSP00000621210.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 570,
"cds_start": 981,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951151.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.963delC",
"hgvs_p": "p.Lys322fs",
"transcript": "ENST00000872933.1",
"protein_id": "ENSP00000542992.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 564,
"cds_start": 963,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 2308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872933.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.867delC",
"hgvs_p": "p.Lys290fs",
"transcript": "ENST00000872931.1",
"protein_id": "ENSP00000542990.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 560,
"cds_start": 867,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872931.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.915delC",
"hgvs_p": "p.Lys306fs",
"transcript": "ENST00000951145.1",
"protein_id": "ENSP00000621204.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 548,
"cds_start": 915,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951145.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.909delC",
"hgvs_p": "p.Lys304fs",
"transcript": "ENST00000951139.1",
"protein_id": "ENSP00000621198.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 546,
"cds_start": 909,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951139.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1035delC",
"hgvs_p": "p.Lys346fs",
"transcript": "ENST00000951142.1",
"protein_id": "ENSP00000621201.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 536,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 2207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951142.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1029delC",
"hgvs_p": "p.Lys344fs",
"transcript": "ENST00000951137.1",
"protein_id": "ENSP00000621196.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 534,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951137.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.867delC",
"hgvs_p": "p.Lys290fs",
"transcript": "ENST00000872926.1",
"protein_id": "ENSP00000542985.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 532,
"cds_start": 867,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 3396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872926.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.867delC",
"hgvs_p": "p.Lys290fs",
"transcript": "ENST00000951127.1",
"protein_id": "ENSP00000621186.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 532,
"cds_start": 867,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 3710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951127.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.867delC",
"hgvs_p": "p.Lys290fs",
"transcript": "ENST00000951134.1",
"protein_id": "ENSP00000621193.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 532,
"cds_start": 867,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951134.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.843delC",
"hgvs_p": "p.Lys282fs",
"transcript": "ENST00000951147.1",
"protein_id": "ENSP00000621206.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 524,
"cds_start": 843,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 2154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951147.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.987delC",
"hgvs_p": "p.Lys330fs",
"transcript": "ENST00000872927.1",
"protein_id": "ENSP00000542986.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 520,
"cds_start": 987,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 3335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872927.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.987delC",
"hgvs_p": "p.Lys330fs",
"transcript": "ENST00000872929.1",
"protein_id": "ENSP00000542988.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 520,
"cds_start": 987,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 2372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872929.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.987delC",
"hgvs_p": "p.Lys330fs",
"transcript": "ENST00000951130.1",
"protein_id": "ENSP00000621189.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 520,
"cds_start": 987,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1430,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951130.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.771delC",
"hgvs_p": "p.Lys258fs",
"transcript": "ENST00000951144.1",
"protein_id": "ENSP00000621203.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 500,
"cds_start": 771,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951144.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.867delC",
"hgvs_p": "p.Lys290fs",
"transcript": "NM_001281473.2",
"protein_id": "NP_001268402.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 480,
"cds_start": 867,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 3384,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281473.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.867delC",
"hgvs_p": "p.Lys290fs",
"transcript": "ENST00000951131.1",
"protein_id": "ENSP00000621190.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 480,
"cds_start": 867,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 2251,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951131.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.747delC",
"hgvs_p": "p.Lys250fs",
"transcript": "ENST00000872937.1",
"protein_id": "ENSP00000542996.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 440,
"cds_start": 747,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 1902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872937.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.552delC",
"hgvs_p": "p.Lys185fs",
"transcript": "ENST00000872936.1",
"protein_id": "ENSP00000542995.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 375,
"cds_start": 552,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872936.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.48delC",
"hgvs_p": "p.Lys17fs",
"transcript": "ENST00000415753.5",
"protein_id": "ENSP00000409897.1",
"transcript_support_level": 2,
"aa_start": 16,
"aa_end": null,
"aa_length": 235,
"cds_start": 48,
"cds_end": null,
"cds_length": 708,
"cdna_start": 49,
"cdna_end": null,
"cdna_length": 841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415753.5"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.231delC",
"hgvs_p": "p.Lys78fs",
"transcript": "ENST00000436965.5",
"protein_id": "ENSP00000405337.1",
"transcript_support_level": 3,
"aa_start": 77,
"aa_end": null,
"aa_length": 201,
"cds_start": 231,
"cds_end": null,
"cds_length": 608,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436965.5"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.987delC",
"hgvs_p": "p.Lys330fs",
"transcript": "XM_017004893.2",
"protein_id": "XP_016860382.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 600,
"cds_start": 987,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 3879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004893.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.987delC",
"hgvs_p": "p.Lys330fs",
"transcript": "XM_047445806.1",
"protein_id": "XP_047301762.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 572,
"cds_start": 987,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 3795,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445806.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.867delC",
"hgvs_p": "p.Lys290fs",
"transcript": "XM_006712737.2",
"protein_id": "XP_006712800.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 560,
"cds_start": 867,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712737.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.987delC",
"hgvs_p": "p.Lys330fs",
"transcript": "XM_047445807.1",
"protein_id": "XP_047301763.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 551,
"cds_start": 987,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 2018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445807.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.987delC",
"hgvs_p": "p.Lys330fs",
"transcript": "XM_006712739.2",
"protein_id": "XP_006712802.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 548,
"cds_start": 987,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712739.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.867delC",
"hgvs_p": "p.Lys290fs",
"transcript": "XM_006712740.2",
"protein_id": "XP_006712803.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 532,
"cds_start": 867,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 3540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712740.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.987delC",
"hgvs_p": "p.Lys330fs",
"transcript": "XM_017004894.2",
"protein_id": "XP_016860383.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 523,
"cds_start": 987,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004894.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.987delC",
"hgvs_p": "p.Lys330fs",
"transcript": "XM_047445808.1",
"protein_id": "XP_047301764.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 520,
"cds_start": 987,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 3504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445808.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.867delC",
"hgvs_p": "p.Lys290fs",
"transcript": "XM_047445809.1",
"protein_id": "XP_047301765.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 508,
"cds_start": 867,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445809.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.552delC",
"hgvs_p": "p.Lys185fs",
"transcript": "XM_011511812.2",
"protein_id": "XP_011510114.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 455,
"cds_start": 552,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 5996,
"cdna_end": null,
"cdna_length": 8542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511812.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.867delC",
"hgvs_p": "p.Lys290fs",
"transcript": "XM_047445810.1",
"protein_id": "XP_047301766.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 431,
"cds_start": 867,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445810.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.552delC",
"hgvs_p": "p.Lys185fs",
"transcript": "XM_047445811.1",
"protein_id": "XP_047301767.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 427,
"cds_start": 552,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 5996,
"cdna_end": null,
"cdna_length": 8458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445811.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.432delC",
"hgvs_p": "p.Lys145fs",
"transcript": "XM_047445812.1",
"protein_id": "XP_047301768.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 415,
"cds_start": 432,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 5876,
"cdna_end": null,
"cdna_length": 8422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445812.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.432delC",
"hgvs_p": "p.Lys145fs",
"transcript": "XM_047445813.1",
"protein_id": "XP_047301769.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 387,
"cds_start": 432,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 5876,
"cdna_end": null,
"cdna_length": 8338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445813.1"
},
{
"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": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.675+7454delC",
"hgvs_p": null,
"transcript": "NM_001281474.2",
"protein_id": "NP_001268403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 457,
"cds_start": null,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281474.2"
},
{
"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": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.675+7454delC",
"hgvs_p": null,
"transcript": "ENST00000410032.5",
"protein_id": "ENSP00000386338.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 457,
"cds_start": null,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410032.5"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.675+7454delC",
"hgvs_p": null,
"transcript": "ENST00000917529.1",
"protein_id": "ENSP00000587588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 457,
"cds_start": null,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917529.1"
},
{
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.555+8835delC",
"hgvs_p": null,
"transcript": "ENST00000917527.1",
"protein_id": "ENSP00000587586.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": null,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1875,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917527.1"
},
{
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.675+7454delC",
"hgvs_p": null,
"transcript": "ENST00000951129.1",
"protein_id": "ENSP00000621188.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 405,
"cds_start": null,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951129.1"
},
{
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.555+8835delC",
"hgvs_p": null,
"transcript": "ENST00000917528.1",
"protein_id": "ENSP00000587587.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 365,
"cds_start": null,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1698,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917528.1"
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.300+1678delC",
"hgvs_p": null,
"transcript": "ENST00000437893.5",
"protein_id": "ENSP00000412438.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437893.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "n.666delC",
"hgvs_p": null,
"transcript": "ENST00000478712.5",
"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": 1371,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000478712.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "n.239delC",
"hgvs_p": null,
"transcript": "ENST00000482528.1",
"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": 439,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482528.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "n.363delC",
"hgvs_p": null,
"transcript": "ENST00000485956.1",
"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": 707,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485956.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "n.667delC",
"hgvs_p": null,
"transcript": "ENST00000494110.5",
"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": 883,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000494110.5"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "n.1364delC",
"hgvs_p": null,
"transcript": "ENST00000495439.5",
"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": 2341,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000495439.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "n.1198delC",
"hgvs_p": null,
"transcript": "NR_104019.2",
"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": 3933,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104019.2"
}
],
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"dbsnp": "rs786205641",
"frequency_reference_population": 6.8404506e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84045e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"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": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.42,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_024101.7",
"gene_symbol": "MLPH",
"hgnc_id": 29643,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.987delC",
"hgvs_p": "p.Lys330fs"
}
],
"clinvar_disease": "Griscelli syndrome type 3,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "not provided|Griscelli syndrome type 3",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}