← 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: 12-109595142-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109595142&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109595142,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001414512.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Ala334Thr",
"transcript": "NM_000431.4",
"protein_id": "NP_000422.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 396,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": "ENST00000228510.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000431.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Ala334Thr",
"transcript": "ENST00000228510.8",
"protein_id": "ENSP00000228510.3",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 396,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": "NM_000431.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228510.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "NM_001414512.1",
"protein_id": "NP_001401441.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 421,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414512.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Ala334Thr",
"transcript": "NM_001114185.3",
"protein_id": "NP_001107657.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 396,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 2824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114185.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Ala334Thr",
"transcript": "NM_001414511.1",
"protein_id": "NP_001401440.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 396,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 2989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414511.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Ala334Thr",
"transcript": "ENST00000546277.6",
"protein_id": "ENSP00000438153.2",
"transcript_support_level": 5,
"aa_start": 334,
"aa_end": null,
"aa_length": 396,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546277.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Ala334Thr",
"transcript": "ENST00000878306.1",
"protein_id": "ENSP00000548365.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 396,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1085,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878306.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Ala334Thr",
"transcript": "ENST00000878307.1",
"protein_id": "ENSP00000548366.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 396,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 2029,
"cdna_end": null,
"cdna_length": 2906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878307.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Ala334Thr",
"transcript": "ENST00000878309.1",
"protein_id": "ENSP00000548368.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 396,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1836,
"cdna_end": null,
"cdna_length": 2728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878309.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Ala334Thr",
"transcript": "ENST00000965100.1",
"protein_id": "ENSP00000635159.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 396,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965100.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.997G>A",
"hgvs_p": "p.Ala333Thr",
"transcript": "ENST00000878308.1",
"protein_id": "ENSP00000548367.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 395,
"cds_start": 997,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878308.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Ala334Thr",
"transcript": "NM_001414513.1",
"protein_id": "NP_001401442.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 363,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414513.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Ala283Thr",
"transcript": "ENST00000636996.1",
"protein_id": "ENSP00000490869.1",
"transcript_support_level": 5,
"aa_start": 283,
"aa_end": null,
"aa_length": 345,
"cds_start": 847,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 1725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636996.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Ala282Thr",
"transcript": "NM_001301182.2",
"protein_id": "NP_001288111.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 344,
"cds_start": 844,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301182.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Ala282Thr",
"transcript": "ENST00000392727.7",
"protein_id": "ENSP00000376487.3",
"transcript_support_level": 2,
"aa_start": 282,
"aa_end": null,
"aa_length": 344,
"cds_start": 844,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 1770,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392727.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Ala282Thr",
"transcript": "ENST00000878305.1",
"protein_id": "ENSP00000548364.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 344,
"cds_start": 844,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878305.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Ala282Thr",
"transcript": "ENST00000920974.1",
"protein_id": "ENSP00000591033.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 344,
"cds_start": 844,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1696,
"cdna_end": null,
"cdna_length": 3424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920974.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Ala282Thr",
"transcript": "NM_001414514.1",
"protein_id": "NP_001401443.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 311,
"cds_start": 844,
"cds_end": null,
"cds_length": 936,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 2688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414514.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Ala140Thr",
"transcript": "NM_001414515.1",
"protein_id": "NP_001401444.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 202,
"cds_start": 418,
"cds_end": null,
"cds_length": 609,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414515.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.157G>A",
"hgvs_p": "p.Ala53Thr",
"transcript": "ENST00000539696.6",
"protein_id": "ENSP00000439134.1",
"transcript_support_level": 5,
"aa_start": 53,
"aa_end": null,
"aa_length": 115,
"cds_start": 157,
"cds_end": null,
"cds_length": 348,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 1193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539696.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.1300G>A",
"hgvs_p": "p.Ala434Thr",
"transcript": "XM_047428873.1",
"protein_id": "XP_047284829.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 496,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428873.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Ala334Thr",
"transcript": "XM_017019314.2",
"protein_id": "XP_016874803.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 396,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1896,
"cdna_end": null,
"cdna_length": 3635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019314.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Ala282Thr",
"transcript": "XM_017019313.3",
"protein_id": "XP_016874802.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 344,
"cds_start": 844,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019313.3"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.*447G>A",
"hgvs_p": null,
"transcript": "ENST00000447878.6",
"protein_id": "ENSP00000415555.2",
"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": 1644,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000447878.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.*673G>A",
"hgvs_p": null,
"transcript": "ENST00000537237.5",
"protein_id": "ENSP00000445382.1",
"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": 1296,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000537237.5"
},
{
"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": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.3233G>A",
"hgvs_p": null,
"transcript": "ENST00000540353.1",
"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": 4109,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000540353.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.639G>A",
"hgvs_p": null,
"transcript": "ENST00000636529.2",
"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": 1523,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000636529.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.*764G>A",
"hgvs_p": null,
"transcript": "ENST00000697195.1",
"protein_id": "ENSP00000513181.1",
"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": 2839,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697195.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.*173G>A",
"hgvs_p": null,
"transcript": "ENST00000697196.1",
"protein_id": "ENSP00000513182.1",
"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": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697196.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.3029G>A",
"hgvs_p": null,
"transcript": "ENST00000697197.1",
"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": 3845,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000697197.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.1384G>A",
"hgvs_p": null,
"transcript": "ENST00000697198.1",
"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": 2210,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000697198.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.1212G>A",
"hgvs_p": null,
"transcript": "NR_182758.1",
"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": 2951,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_182758.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.949G>A",
"hgvs_p": null,
"transcript": "NR_182759.1",
"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": 2688,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_182759.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.1003G>A",
"hgvs_p": null,
"transcript": "NR_182760.1",
"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": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_182760.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.793G>A",
"hgvs_p": null,
"transcript": "NR_182762.1",
"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": 2532,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_182762.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.*447G>A",
"hgvs_p": null,
"transcript": "ENST00000447878.6",
"protein_id": "ENSP00000415555.2",
"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": 1644,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000447878.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.*673G>A",
"hgvs_p": null,
"transcript": "ENST00000537237.5",
"protein_id": "ENSP00000445382.1",
"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": 1296,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000537237.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.*764G>A",
"hgvs_p": null,
"transcript": "ENST00000697195.1",
"protein_id": "ENSP00000513181.1",
"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": 2839,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697195.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.*173G>A",
"hgvs_p": null,
"transcript": "ENST00000697196.1",
"protein_id": "ENSP00000513182.1",
"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": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697196.1"
}
],
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"dbsnp": "rs104895317",
"frequency_reference_population": 0.00012453392,
"hom_count_reference_population": 0,
"allele_count_reference_population": 201,
"gnomad_exomes_af": 0.000131342,
"gnomad_genomes_af": 0.0000591382,
"gnomad_exomes_ac": 192,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8626618981361389,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.862,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5981,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.946,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PS3",
"PM1",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001414512.1",
"gene_symbol": "MVK",
"hgnc_id": 7530,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr"
}
],
"clinvar_disease": " disseminated superficial actinic type,Hyperimmunoglobulin D with periodic fever,Mevalonic aciduria,Porokeratosis 3,Retinal dystrophy,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6 O:1",
"phenotype_combined": "Mevalonic aciduria|Hyperimmunoglobulin D with periodic fever|Mevalonic aciduria;Porokeratosis 3, disseminated superficial actinic type;Hyperimmunoglobulin D with periodic fever|not provided|Mevalonic aciduria;Hyperimmunoglobulin D with periodic fever|Retinal dystrophy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}