← 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: 17-15231058-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=15231058&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 15231058,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000312280.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Gly111Ser",
"transcript": "ENST00000395938.7",
"protein_id": "ENSP00000379269.3",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 217,
"cds_start": 331,
"cds_end": null,
"cds_length": 654,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.342G>A",
"hgvs_p": "p.Ala114Ala",
"transcript": "NM_000304.4",
"protein_id": "NP_000295.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 160,
"cds_start": 342,
"cds_end": null,
"cds_length": 483,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": "ENST00000312280.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.342G>A",
"hgvs_p": "p.Ala114Ala",
"transcript": "ENST00000312280.9",
"protein_id": "ENSP00000308937.3",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 160,
"cds_start": 342,
"cds_end": null,
"cds_length": 483,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": "NM_000304.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.138G>A",
"hgvs_p": "p.Ala46Ala",
"transcript": "ENST00000494511.7",
"protein_id": "ENSP00000462782.2",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 92,
"cds_start": 138,
"cds_end": null,
"cds_length": 279,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 1616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Gly111Ser",
"transcript": "ENST00000674947.1",
"protein_id": "ENSP00000501580.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 217,
"cds_start": 331,
"cds_end": null,
"cds_length": 654,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 1662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.444G>A",
"hgvs_p": "p.Ala148Ala",
"transcript": "ENST00000676329.1",
"protein_id": "ENSP00000501698.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 194,
"cds_start": 444,
"cds_end": null,
"cds_length": 585,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 1757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.342G>A",
"hgvs_p": "p.Ala114Ala",
"transcript": "NM_001281455.2",
"protein_id": "NP_001268384.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 160,
"cds_start": 342,
"cds_end": null,
"cds_length": 483,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.342G>A",
"hgvs_p": "p.Ala114Ala",
"transcript": "NM_001281456.2",
"protein_id": "NP_001268385.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 160,
"cds_start": 342,
"cds_end": null,
"cds_length": 483,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.342G>A",
"hgvs_p": "p.Ala114Ala",
"transcript": "NM_153321.3",
"protein_id": "NP_696996.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 160,
"cds_start": 342,
"cds_end": null,
"cds_length": 483,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.342G>A",
"hgvs_p": "p.Ala114Ala",
"transcript": "NM_153322.3",
"protein_id": "NP_696997.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 160,
"cds_start": 342,
"cds_end": null,
"cds_length": 483,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 1714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.342G>A",
"hgvs_p": "p.Ala114Ala",
"transcript": "ENST00000612492.5",
"protein_id": "ENSP00000484631.1",
"transcript_support_level": 3,
"aa_start": 114,
"aa_end": null,
"aa_length": 160,
"cds_start": 342,
"cds_end": null,
"cds_length": 483,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.342G>A",
"hgvs_p": "p.Ala114Ala",
"transcript": "ENST00000674651.1",
"protein_id": "ENSP00000501727.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 160,
"cds_start": 342,
"cds_end": null,
"cds_length": 483,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 1755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.342G>A",
"hgvs_p": "p.Ala114Ala",
"transcript": "ENST00000674673.1",
"protein_id": "ENSP00000501804.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 160,
"cds_start": 342,
"cds_end": null,
"cds_length": 483,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.342G>A",
"hgvs_p": "p.Ala114Ala",
"transcript": "ENST00000674868.1",
"protein_id": "ENSP00000502835.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 160,
"cds_start": 342,
"cds_end": null,
"cds_length": 483,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 1312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.342G>A",
"hgvs_p": "p.Ala114Ala",
"transcript": "ENST00000675350.1",
"protein_id": "ENSP00000501557.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 160,
"cds_start": 342,
"cds_end": null,
"cds_length": 483,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 1058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.342G>A",
"hgvs_p": "p.Ala114Ala",
"transcript": "ENST00000675808.1",
"protein_id": "ENSP00000502310.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 160,
"cds_start": 342,
"cds_end": null,
"cds_length": 483,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 2047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.342G>A",
"hgvs_p": "p.Ala114Ala",
"transcript": "ENST00000675819.1",
"protein_id": "ENSP00000502018.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 160,
"cds_start": 342,
"cds_end": null,
"cds_length": 483,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.342G>A",
"hgvs_p": "p.Ala114Ala",
"transcript": "ENST00000675950.1",
"protein_id": "ENSP00000501546.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 160,
"cds_start": 342,
"cds_end": null,
"cds_length": 483,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.342G>A",
"hgvs_p": "p.Ala114Ala",
"transcript": "ENST00000676221.1",
"protein_id": "ENSP00000502601.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 160,
"cds_start": 342,
"cds_end": null,
"cds_length": 483,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.201G>A",
"hgvs_p": "p.Ala67Ala",
"transcript": "ENST00000676161.1",
"protein_id": "ENSP00000501766.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 113,
"cds_start": 201,
"cds_end": null,
"cds_length": 342,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.138G>A",
"hgvs_p": "p.Ala46Ala",
"transcript": "ENST00000580584.3",
"protein_id": "ENSP00000464468.3",
"transcript_support_level": 3,
"aa_start": 46,
"aa_end": null,
"aa_length": 92,
"cds_start": 138,
"cds_end": null,
"cds_length": 279,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.138G>A",
"hgvs_p": "p.Ala46Ala",
"transcript": "ENST00000674707.1",
"protein_id": "ENSP00000502250.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 92,
"cds_start": 138,
"cds_end": null,
"cds_length": 279,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 1543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.138G>A",
"hgvs_p": "p.Ala46Ala",
"transcript": "ENST00000675854.1",
"protein_id": "ENSP00000502324.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 92,
"cds_start": 138,
"cds_end": null,
"cds_length": 279,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "n.*197G>A",
"hgvs_p": null,
"transcript": "ENST00000643451.2",
"protein_id": "ENSP00000494628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "n.358G>A",
"hgvs_p": null,
"transcript": "ENST00000674871.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "n.322G>A",
"hgvs_p": null,
"transcript": "ENST00000675197.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "n.335G>A",
"hgvs_p": null,
"transcript": "ENST00000676002.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "n.437G>A",
"hgvs_p": null,
"transcript": "NR_104017.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "n.337G>A",
"hgvs_p": null,
"transcript": "NR_104018.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.*11G>A",
"hgvs_p": null,
"transcript": "ENST00000675551.1",
"protein_id": "ENSP00000501945.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": -4,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.*51G>A",
"hgvs_p": null,
"transcript": "ENST00000395936.7",
"protein_id": "ENSP00000379268.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": -4,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.*51G>A",
"hgvs_p": null,
"transcript": "ENST00000644020.1",
"protein_id": "ENSP00000496522.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": -4,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.*51G>A",
"hgvs_p": null,
"transcript": "ENST00000646419.2",
"protein_id": "ENSP00000494871.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": -4,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "n.*197G>A",
"hgvs_p": null,
"transcript": "ENST00000643451.2",
"protein_id": "ENSP00000494628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"hgvs_c": "c.*1485G>A",
"hgvs_p": null,
"transcript": "XM_047436306.1",
"protein_id": "XP_047292262.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 129,
"cds_start": -4,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PMP22",
"gene_hgnc_id": 9118,
"dbsnp": "rs201871607",
"frequency_reference_population": 0.000032225158,
"hom_count_reference_population": 0,
"allele_count_reference_population": 52,
"gnomad_exomes_af": 0.0000307865,
"gnomad_genomes_af": 0.0000460623,
"gnomad_exomes_ac": 45,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5799999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.95,
"phylop100way_prediction": "Benign",
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000312280.9",
"gene_symbol": "PMP22",
"hgnc_id": 9118,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.342G>A",
"hgvs_p": "p.Ala114Ala"
}
],
"clinvar_disease": " type I,Charcot-Marie-Tooth disease,Inborn genetic diseases,PMP22-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Charcot-Marie-Tooth disease, type I|Inborn genetic diseases|PMP22-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}