← 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: 2-27312572-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27312572&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27312572,
"ref": "A",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_002437.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.297T>A",
"hgvs_p": "p.Cys99*",
"transcript": "NM_002437.5",
"protein_id": "NP_002428.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 176,
"cds_start": 297,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380044.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002437.5"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.297T>A",
"hgvs_p": "p.Cys99*",
"transcript": "ENST00000380044.6",
"protein_id": "ENSP00000369383.1",
"transcript_support_level": 1,
"aa_start": 99,
"aa_end": null,
"aa_length": 176,
"cds_start": 297,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002437.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380044.6"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.297T>A",
"hgvs_p": "p.Cys99*",
"transcript": "ENST00000233545.6",
"protein_id": "ENSP00000233545.2",
"transcript_support_level": 1,
"aa_start": 99,
"aa_end": null,
"aa_length": 176,
"cds_start": 297,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233545.6"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.297T>A",
"hgvs_p": "p.Cys99*",
"transcript": "ENST00000403262.6",
"protein_id": "ENSP00000385671.1",
"transcript_support_level": 1,
"aa_start": 99,
"aa_end": null,
"aa_length": 171,
"cds_start": 297,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403262.6"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.447T>A",
"hgvs_p": "p.Cys149*",
"transcript": "ENST00000911060.1",
"protein_id": "ENSP00000581119.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 226,
"cds_start": 447,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911060.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.366T>A",
"hgvs_p": "p.Cys122*",
"transcript": "ENST00000931184.1",
"protein_id": "ENSP00000601243.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 199,
"cds_start": 366,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931184.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.342T>A",
"hgvs_p": "p.Cys114*",
"transcript": "ENST00000405983.5",
"protein_id": "ENSP00000384586.1",
"transcript_support_level": 5,
"aa_start": 114,
"aa_end": null,
"aa_length": 191,
"cds_start": 342,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405983.5"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.342T>A",
"hgvs_p": "p.Cys114*",
"transcript": "ENST00000931185.1",
"protein_id": "ENSP00000601244.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 191,
"cds_start": 342,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931185.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.297T>A",
"hgvs_p": "p.Cys99*",
"transcript": "ENST00000911063.1",
"protein_id": "ENSP00000581122.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 176,
"cds_start": 297,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911063.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.297T>A",
"hgvs_p": "p.Cys99*",
"transcript": "ENST00000931181.1",
"protein_id": "ENSP00000601240.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 176,
"cds_start": 297,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931181.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.297T>A",
"hgvs_p": "p.Cys99*",
"transcript": "ENST00000931186.1",
"protein_id": "ENSP00000601245.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 176,
"cds_start": 297,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931186.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.294T>A",
"hgvs_p": "p.Cys98*",
"transcript": "ENST00000931180.1",
"protein_id": "ENSP00000601239.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 175,
"cds_start": 294,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931180.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.294T>A",
"hgvs_p": "p.Cys98*",
"transcript": "ENST00000949905.1",
"protein_id": "ENSP00000619964.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 175,
"cds_start": 294,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949905.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.297T>A",
"hgvs_p": "p.Cys99*",
"transcript": "ENST00000402310.5",
"protein_id": "ENSP00000383955.1",
"transcript_support_level": 5,
"aa_start": 99,
"aa_end": null,
"aa_length": 170,
"cds_start": 297,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402310.5"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.297T>A",
"hgvs_p": "p.Cys99*",
"transcript": "ENST00000911062.1",
"protein_id": "ENSP00000581121.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 165,
"cds_start": 297,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911062.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.297T>A",
"hgvs_p": "p.Cys99*",
"transcript": "ENST00000931183.1",
"protein_id": "ENSP00000601242.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 165,
"cds_start": 297,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931183.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.297T>A",
"hgvs_p": "p.Cys99*",
"transcript": "ENST00000911061.1",
"protein_id": "ENSP00000581120.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 158,
"cds_start": 297,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911061.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.225T>A",
"hgvs_p": "p.Cys75*",
"transcript": "ENST00000949903.1",
"protein_id": "ENSP00000619962.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 152,
"cds_start": 225,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949903.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.297T>A",
"hgvs_p": "p.Cys99*",
"transcript": "ENST00000931182.1",
"protein_id": "ENSP00000601241.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 147,
"cds_start": 297,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931182.1"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.129T>A",
"hgvs_p": "p.Cys43*",
"transcript": "ENST00000357186.10",
"protein_id": "ENSP00000349713.6",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 120,
"cds_start": 129,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357186.10"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.219T>A",
"hgvs_p": "p.Cys73*",
"transcript": "ENST00000428910.5",
"protein_id": "ENSP00000405235.1",
"transcript_support_level": 5,
"aa_start": 73,
"aa_end": null,
"aa_length": 114,
"cds_start": 219,
"cds_end": null,
"cds_length": 347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428910.5"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.297T>A",
"hgvs_p": "p.Cys99*",
"transcript": "XM_005264326.5",
"protein_id": "XP_005264383.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 176,
"cds_start": 297,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264326.5"
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.249T>A",
"hgvs_p": "p.Cys83*",
"transcript": "XM_017004151.2",
"protein_id": "XP_016859640.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 160,
"cds_start": 249,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004151.2"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.262T>A",
"hgvs_p": "p.Phe88Ile",
"transcript": "ENST00000402722.5",
"protein_id": "ENSP00000386000.1",
"transcript_support_level": 3,
"aa_start": 88,
"aa_end": null,
"aa_length": 99,
"cds_start": 262,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402722.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.207+108T>A",
"hgvs_p": null,
"transcript": "ENST00000430991.5",
"protein_id": "ENSP00000406441.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430991.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.187-326T>A",
"hgvs_p": null,
"transcript": "ENST00000405076.5",
"protein_id": "ENSP00000385175.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": null,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405076.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.187-326T>A",
"hgvs_p": null,
"transcript": "ENST00000949904.1",
"protein_id": "ENSP00000619963.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": null,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949904.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "n.*98T>A",
"hgvs_p": null,
"transcript": "ENST00000415514.5",
"protein_id": "ENSP00000388043.1",
"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": "ENST00000415514.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "n.262T>A",
"hgvs_p": null,
"transcript": "ENST00000426513.6",
"protein_id": "ENSP00000403824.2",
"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": "ENST00000426513.6"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "n.325T>A",
"hgvs_p": null,
"transcript": "ENST00000475085.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000475085.1"
},
{
"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": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "n.274T>A",
"hgvs_p": null,
"transcript": "ENST00000616446.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000616446.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "n.816T>A",
"hgvs_p": null,
"transcript": "ENST00000616707.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000616707.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "n.323T>A",
"hgvs_p": null,
"transcript": "ENST00000617583.4",
"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": "ENST00000617583.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "n.353T>A",
"hgvs_p": null,
"transcript": "ENST00000621183.4",
"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": "retained_intron",
"feature": "ENST00000621183.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "n.313T>A",
"hgvs_p": null,
"transcript": "ENST00000621470.4",
"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": "retained_intron",
"feature": "ENST00000621470.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "n.470T>A",
"hgvs_p": null,
"transcript": "ENST00000622003.4",
"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": "retained_intron",
"feature": "ENST00000622003.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "n.*98T>A",
"hgvs_p": null,
"transcript": "ENST00000415514.5",
"protein_id": "ENSP00000388043.1",
"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": "ENST00000415514.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "n.-119T>A",
"hgvs_p": null,
"transcript": "ENST00000620797.4",
"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": "ENST00000620797.4"
}
],
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"dbsnp": "rs1553383467",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2930000126361847,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.293,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4815,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.758,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_002437.5",
"gene_symbol": "MPV17",
"hgnc_id": 7224,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.297T>A",
"hgvs_p": "p.Cys99*"
}
],
"clinvar_disease": "Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"phenotype_combined": "Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}