← 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: 15-67592963-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=67592963&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 67592963,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_145160.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "NM_145160.3",
"protein_id": "NP_660143.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 448,
"cds_start": 469,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000178640.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145160.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000178640.10",
"protein_id": "ENSP00000178640.5",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 448,
"cds_start": 469,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145160.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000178640.10"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000395476.6",
"protein_id": "ENSP00000378859.2",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 438,
"cds_start": 469,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395476.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000952141.1",
"protein_id": "ENSP00000622200.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 505,
"cds_start": 469,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952141.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000879775.1",
"protein_id": "ENSP00000549834.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 490,
"cds_start": 469,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879775.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000879770.1",
"protein_id": "ENSP00000549829.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 480,
"cds_start": 469,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879770.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000952139.1",
"protein_id": "ENSP00000622198.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 468,
"cds_start": 469,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952139.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000879777.1",
"protein_id": "ENSP00000549836.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 463,
"cds_start": 469,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879777.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000879778.1",
"protein_id": "ENSP00000549837.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 458,
"cds_start": 469,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879778.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000879773.1",
"protein_id": "ENSP00000549832.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 453,
"cds_start": 469,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879773.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000952140.1",
"protein_id": "ENSP00000622199.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 447,
"cds_start": 469,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952140.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000879774.1",
"protein_id": "ENSP00000549833.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 439,
"cds_start": 469,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879774.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "NM_002757.4",
"protein_id": "NP_002748.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 438,
"cds_start": 469,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002757.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000879769.1",
"protein_id": "ENSP00000549828.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 429,
"cds_start": 469,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879769.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000952137.1",
"protein_id": "ENSP00000622196.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 428,
"cds_start": 469,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952137.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000879772.1",
"protein_id": "ENSP00000549831.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 424,
"cds_start": 469,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879772.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000952135.1",
"protein_id": "ENSP00000622194.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 418,
"cds_start": 469,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952135.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000952136.1",
"protein_id": "ENSP00000622195.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 414,
"cds_start": 469,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952136.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000879780.1",
"protein_id": "ENSP00000549839.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 413,
"cds_start": 469,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879780.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Ala121Thr",
"transcript": "NM_001206804.2",
"protein_id": "NP_001193733.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 412,
"cds_start": 361,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206804.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Ala121Thr",
"transcript": "ENST00000354498.9",
"protein_id": "ENSP00000346493.5",
"transcript_support_level": 2,
"aa_start": 121,
"aa_end": null,
"aa_length": 412,
"cds_start": 361,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354498.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Ala120Thr",
"transcript": "ENST00000879771.1",
"protein_id": "ENSP00000549830.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 411,
"cds_start": 358,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879771.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000952142.1",
"protein_id": "ENSP00000622201.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 407,
"cds_start": 469,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952142.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Ala111Thr",
"transcript": "ENST00000879776.1",
"protein_id": "ENSP00000549835.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 402,
"cds_start": 331,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879776.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000931464.1",
"protein_id": "ENSP00000601523.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 402,
"cds_start": 469,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931464.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000879779.1",
"protein_id": "ENSP00000549838.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 392,
"cds_start": 469,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879779.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000952138.1",
"protein_id": "ENSP00000622197.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 390,
"cds_start": 469,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952138.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000931465.1",
"protein_id": "ENSP00000601524.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 336,
"cds_start": 469,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931465.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "ENST00000952134.1",
"protein_id": "ENSP00000622193.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 336,
"cds_start": 469,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952134.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Ala49Thr",
"transcript": "ENST00000559262.5",
"protein_id": "ENSP00000480580.1",
"transcript_support_level": 5,
"aa_start": 49,
"aa_end": null,
"aa_length": 181,
"cds_start": 145,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559262.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.268G>A",
"hgvs_p": "p.Ala90Thr",
"transcript": "ENST00000439036.5",
"protein_id": "ENSP00000390196.1",
"transcript_support_level": 3,
"aa_start": 90,
"aa_end": null,
"aa_length": 128,
"cds_start": 268,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439036.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "XM_011521787.4",
"protein_id": "XP_011520089.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 289,
"cds_start": 469,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521787.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "XM_011521788.4",
"protein_id": "XP_011520090.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 283,
"cds_start": 469,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521788.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr",
"transcript": "XM_017022414.3",
"protein_id": "XP_016877903.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 267,
"cds_start": 469,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022414.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Ala121Thr",
"transcript": "XM_047432856.1",
"protein_id": "XP_047288812.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 247,
"cds_start": 361,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432856.1"
},
{
"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": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "c.252+29613G>A",
"hgvs_p": null,
"transcript": "ENST00000952143.1",
"protein_id": "ENSP00000622202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 337,
"cds_start": null,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952143.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "n.295G>A",
"hgvs_p": null,
"transcript": "ENST00000558392.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000558392.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "n.542G>A",
"hgvs_p": null,
"transcript": "ENST00000560591.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000560591.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"hgvs_c": "n.1102G>A",
"hgvs_p": null,
"transcript": "XR_007064474.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064474.1"
}
],
"gene_symbol": "MAP2K5",
"gene_hgnc_id": 6845,
"dbsnp": "rs368455000",
"frequency_reference_population": 0.00002622548,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.0000262178,
"gnomad_genomes_af": 0.0000262988,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16824927926063538,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.076,
"revel_prediction": "Benign",
"alphamissense_score": 0.1456,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.356,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_145160.3",
"gene_symbol": "MAP2K5",
"hgnc_id": 6845,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Ala157Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}