← 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: 1-6469128-CTCC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6469128&ref=CTCC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 6469128,
"ref": "CTCC",
"alt": "T",
"effect": "conservative_inframe_deletion,synonymous_variant",
"transcript": "NM_001265593.2",
"consequences": [
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2160_2163delGGAGinsA",
"hgvs_p": "p.Glu721del",
"transcript": "NM_020631.6",
"protein_id": "NP_065682.2",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2160,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377728.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020631.6"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2160_2163delGGAGinsA",
"hgvs_p": "p.Glu721del",
"transcript": "ENST00000377728.8",
"protein_id": "ENSP00000366957.3",
"transcript_support_level": 2,
"aa_start": 720,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2160,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020631.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377728.8"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2271_2274delGGAGinsA",
"hgvs_p": "p.Glu758del",
"transcript": "ENST00000377732.5",
"protein_id": "ENSP00000366961.1",
"transcript_support_level": 1,
"aa_start": 757,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2271,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377732.5"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2271_2274delGGAGinsA",
"hgvs_p": "p.Glu758del",
"transcript": "ENST00000400915.8",
"protein_id": "ENSP00000383706.4",
"transcript_support_level": 1,
"aa_start": 757,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2271,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400915.8"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2160_2163delGGAGinsA",
"hgvs_p": "p.Glu721del",
"transcript": "ENST00000377740.5",
"protein_id": "ENSP00000366969.4",
"transcript_support_level": 1,
"aa_start": 720,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2160,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377740.5"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2160_2163delGGAGinsA",
"hgvs_p": "p.Glu721del",
"transcript": "ENST00000377725.5",
"protein_id": "ENSP00000366954.1",
"transcript_support_level": 1,
"aa_start": 720,
"aa_end": null,
"aa_length": 930,
"cds_start": 2160,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377725.5"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2457_2460delGGAGinsA",
"hgvs_p": "p.Glu820del",
"transcript": "ENST00000673471.2",
"protein_id": "ENSP00000500749.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2457,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673471.2"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2367_2370delGGAGinsA",
"hgvs_p": "p.Glu790del",
"transcript": "NM_001265593.2",
"protein_id": "NP_001252522.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 1075,
"cds_start": 2367,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265593.2"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2367_2370delGGAGinsA",
"hgvs_p": "p.Glu790del",
"transcript": "ENST00000535355.6",
"protein_id": "ENSP00000441445.1",
"transcript_support_level": 2,
"aa_start": 789,
"aa_end": null,
"aa_length": 1075,
"cds_start": 2367,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535355.6"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2334_2337delGGAGinsA",
"hgvs_p": "p.Glu779del",
"transcript": "ENST00000377748.6",
"protein_id": "ENSP00000366977.2",
"transcript_support_level": 2,
"aa_start": 778,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2334,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377748.6"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2271_2274delGGAGinsA",
"hgvs_p": "p.Glu758del",
"transcript": "NM_001042663.3",
"protein_id": "NP_001036128.2",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2271,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042663.3"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2271_2274delGGAGinsA",
"hgvs_p": "p.Glu758del",
"transcript": "NM_001265592.2",
"protein_id": "NP_001252521.2",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2271,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265592.2"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2271_2274delGGAGinsA",
"hgvs_p": "p.Glu758del",
"transcript": "ENST00000537245.6",
"protein_id": "ENSP00000439625.2",
"transcript_support_level": 2,
"aa_start": 757,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2271,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537245.6"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2199_2202delGGAGinsA",
"hgvs_p": "p.Glu734del",
"transcript": "ENST00000856967.1",
"protein_id": "ENSP00000527026.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856967.1"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2160_2163delGGAGinsA",
"hgvs_p": "p.Glu721del",
"transcript": "NM_001042664.2",
"protein_id": "NP_001036129.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2160,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042664.2"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2160_2163delGGAGinsA",
"hgvs_p": "p.Glu721del",
"transcript": "NM_001042665.2",
"protein_id": "NP_001036130.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2160,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042665.2"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2160_2163delGGAGinsA",
"hgvs_p": "p.Glu721del",
"transcript": "NM_198681.4",
"protein_id": "NP_941374.3",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2160,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198681.4"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2160_2163delGGAGinsA",
"hgvs_p": "p.Glu721del",
"transcript": "ENST00000340850.10",
"protein_id": "ENSP00000344570.5",
"transcript_support_level": 5,
"aa_start": 720,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2160,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340850.10"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2160_2163delGGAGinsA",
"hgvs_p": "p.Glu721del",
"transcript": "ENST00000400913.6",
"protein_id": "ENSP00000383704.1",
"transcript_support_level": 5,
"aa_start": 720,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2160,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400913.6"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2160_2163delGGAGinsA",
"hgvs_p": "p.Glu721del",
"transcript": "ENST00000675694.1",
"protein_id": "ENSP00000501925.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2160,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675694.1"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2160_2163delGGAGinsA",
"hgvs_p": "p.Glu721del",
"transcript": "ENST00000856966.1",
"protein_id": "ENSP00000527025.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2160,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856966.1"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2160_2163delGGAGinsA",
"hgvs_p": "p.Glu721del",
"transcript": "ENST00000934259.1",
"protein_id": "ENSP00000604318.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2160,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934259.1"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2160_2163delGGAGinsA",
"hgvs_p": "p.Glu721del",
"transcript": "ENST00000934261.1",
"protein_id": "ENSP00000604320.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2160,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934261.1"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2160_2163delGGAGinsA",
"hgvs_p": "p.Glu721del",
"transcript": "ENST00000948663.1",
"protein_id": "ENSP00000618722.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2160,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948663.1"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2160_2163delGGAGinsA",
"hgvs_p": "p.Glu721del",
"transcript": "ENST00000948666.1",
"protein_id": "ENSP00000618725.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2160,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948666.1"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2160_2163delGGAGinsA",
"hgvs_p": "p.Glu721del",
"transcript": "ENST00000948667.1",
"protein_id": "ENSP00000618726.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2160,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948667.1"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2154_2157delGGAGinsA",
"hgvs_p": "p.Glu719del",
"transcript": "ENST00000948665.1",
"protein_id": "ENSP00000618724.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2154,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948665.1"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2154_2157delGGAGinsA",
"hgvs_p": "p.Glu719del",
"transcript": "ENST00000948668.1",
"protein_id": "ENSP00000618727.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2154,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948668.1"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2094_2097delGGAGinsA",
"hgvs_p": "p.Glu699del",
"transcript": "ENST00000934260.1",
"protein_id": "ENSP00000604319.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 984,
"cds_start": 2094,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934260.1"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2094_2097delGGAGinsA",
"hgvs_p": "p.Glu699del",
"transcript": "ENST00000948664.1",
"protein_id": "ENSP00000618723.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 984,
"cds_start": 2094,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948664.1"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2160_2163delGGAGinsA",
"hgvs_p": "p.Glu721del",
"transcript": "NM_001265594.3",
"protein_id": "NP_001252523.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 930,
"cds_start": 2160,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001265594.3"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.2160_2163delGGAGinsA",
"hgvs_p": "p.Glu721del",
"transcript": "ENST00000675123.1",
"protein_id": "ENSP00000502132.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 775,
"cds_start": 2160,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675123.1"
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "c.33_36delGGAGinsA",
"hgvs_p": "p.Glu12del",
"transcript": "ENST00000675976.1",
"protein_id": "ENSP00000501611.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 295,
"cds_start": 33,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675976.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "n.1362_1365delGGAGinsA",
"hgvs_p": null,
"transcript": "ENST00000487949.4",
"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": "ENST00000487949.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "n.2636_2639delGGAGinsA",
"hgvs_p": null,
"transcript": "ENST00000489097.6",
"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": "ENST00000489097.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "n.*2372_*2375delGGAGinsA",
"hgvs_p": null,
"transcript": "ENST00000674790.1",
"protein_id": "ENSP00000502815.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674790.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "n.231_234delGGAGinsA",
"hgvs_p": null,
"transcript": "ENST00000675139.1",
"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": "retained_intron",
"feature": "ENST00000675139.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "n.*1988_*1991delGGAGinsA",
"hgvs_p": null,
"transcript": "ENST00000675548.1",
"protein_id": "ENSP00000502684.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675548.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "n.*2372_*2375delGGAGinsA",
"hgvs_p": null,
"transcript": "ENST00000674790.1",
"protein_id": "ENSP00000502815.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674790.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "n.*1988_*1991delGGAGinsA",
"hgvs_p": null,
"transcript": "ENST00000675548.1",
"protein_id": "ENSP00000502684.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675548.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"hgvs_c": "n.*95_*98delGGAGinsA",
"hgvs_p": null,
"transcript": "ENST00000676401.1",
"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": "retained_intron",
"feature": "ENST00000676401.1"
}
],
"gene_symbol": "PLEKHG5",
"gene_hgnc_id": 29105,
"dbsnp": "rs386628081",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 4.092,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP3,BP6",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP3",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001265593.2",
"gene_symbol": "PLEKHG5",
"hgnc_id": 29105,
"effects": [
"conservative_inframe_deletion",
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2367_2370delGGAGinsA",
"hgvs_p": "p.Glu790del"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}