← 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: 17-15230969-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=15230969&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 15230969,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000312280.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"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.431C>T",
"hgvs_p": "p.Pro144Leu",
"transcript": "NM_000304.4",
"protein_id": "NP_000295.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 160,
"cds_start": 431,
"cds_end": null,
"cds_length": 483,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": "ENST00000312280.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"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.431C>T",
"hgvs_p": "p.Pro144Leu",
"transcript": "ENST00000312280.9",
"protein_id": "ENSP00000308937.3",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 160,
"cds_start": 431,
"cds_end": null,
"cds_length": 483,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": "NM_000304.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.227C>T",
"hgvs_p": "p.Pro76Leu",
"transcript": "ENST00000494511.7",
"protein_id": "ENSP00000462782.2",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 92,
"cds_start": 227,
"cds_end": null,
"cds_length": 279,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 1616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.420C>T",
"hgvs_p": "p.Pro140Pro",
"transcript": "ENST00000395938.7",
"protein_id": "ENSP00000379269.3",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 217,
"cds_start": 420,
"cds_end": null,
"cds_length": 654,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.533C>T",
"hgvs_p": "p.Pro178Leu",
"transcript": "ENST00000676329.1",
"protein_id": "ENSP00000501698.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 194,
"cds_start": 533,
"cds_end": null,
"cds_length": 585,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 1757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.431C>T",
"hgvs_p": "p.Pro144Leu",
"transcript": "NM_001281455.2",
"protein_id": "NP_001268384.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 160,
"cds_start": 431,
"cds_end": null,
"cds_length": 483,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 1783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.431C>T",
"hgvs_p": "p.Pro144Leu",
"transcript": "NM_001281456.2",
"protein_id": "NP_001268385.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 160,
"cds_start": 431,
"cds_end": null,
"cds_length": 483,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.431C>T",
"hgvs_p": "p.Pro144Leu",
"transcript": "NM_153321.3",
"protein_id": "NP_696996.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 160,
"cds_start": 431,
"cds_end": null,
"cds_length": 483,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.431C>T",
"hgvs_p": "p.Pro144Leu",
"transcript": "NM_153322.3",
"protein_id": "NP_696997.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 160,
"cds_start": 431,
"cds_end": null,
"cds_length": 483,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 1714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.431C>T",
"hgvs_p": "p.Pro144Leu",
"transcript": "ENST00000612492.5",
"protein_id": "ENSP00000484631.1",
"transcript_support_level": 3,
"aa_start": 144,
"aa_end": null,
"aa_length": 160,
"cds_start": 431,
"cds_end": null,
"cds_length": 483,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.431C>T",
"hgvs_p": "p.Pro144Leu",
"transcript": "ENST00000674651.1",
"protein_id": "ENSP00000501727.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 160,
"cds_start": 431,
"cds_end": null,
"cds_length": 483,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 1755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.431C>T",
"hgvs_p": "p.Pro144Leu",
"transcript": "ENST00000674673.1",
"protein_id": "ENSP00000501804.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 160,
"cds_start": 431,
"cds_end": null,
"cds_length": 483,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.431C>T",
"hgvs_p": "p.Pro144Leu",
"transcript": "ENST00000674868.1",
"protein_id": "ENSP00000502835.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 160,
"cds_start": 431,
"cds_end": null,
"cds_length": 483,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 1312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.431C>T",
"hgvs_p": "p.Pro144Leu",
"transcript": "ENST00000675350.1",
"protein_id": "ENSP00000501557.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 160,
"cds_start": 431,
"cds_end": null,
"cds_length": 483,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 1058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.431C>T",
"hgvs_p": "p.Pro144Leu",
"transcript": "ENST00000675808.1",
"protein_id": "ENSP00000502310.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 160,
"cds_start": 431,
"cds_end": null,
"cds_length": 483,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 2047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.431C>T",
"hgvs_p": "p.Pro144Leu",
"transcript": "ENST00000675819.1",
"protein_id": "ENSP00000502018.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 160,
"cds_start": 431,
"cds_end": null,
"cds_length": 483,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.431C>T",
"hgvs_p": "p.Pro144Leu",
"transcript": "ENST00000675950.1",
"protein_id": "ENSP00000501546.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 160,
"cds_start": 431,
"cds_end": null,
"cds_length": 483,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.431C>T",
"hgvs_p": "p.Pro144Leu",
"transcript": "ENST00000676221.1",
"protein_id": "ENSP00000502601.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 160,
"cds_start": 431,
"cds_end": null,
"cds_length": 483,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 1819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.290C>T",
"hgvs_p": "p.Pro97Leu",
"transcript": "ENST00000676161.1",
"protein_id": "ENSP00000501766.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 113,
"cds_start": 290,
"cds_end": null,
"cds_length": 342,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.227C>T",
"hgvs_p": "p.Pro76Leu",
"transcript": "ENST00000580584.3",
"protein_id": "ENSP00000464468.3",
"transcript_support_level": 3,
"aa_start": 76,
"aa_end": null,
"aa_length": 92,
"cds_start": 227,
"cds_end": null,
"cds_length": 279,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.227C>T",
"hgvs_p": "p.Pro76Leu",
"transcript": "ENST00000674707.1",
"protein_id": "ENSP00000502250.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 92,
"cds_start": 227,
"cds_end": null,
"cds_length": 279,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 1543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.227C>T",
"hgvs_p": "p.Pro76Leu",
"transcript": "ENST00000675854.1",
"protein_id": "ENSP00000502324.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 92,
"cds_start": 227,
"cds_end": null,
"cds_length": 279,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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.420C>T",
"hgvs_p": "p.Pro140Pro",
"transcript": "ENST00000674947.1",
"protein_id": "ENSP00000501580.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 217,
"cds_start": 420,
"cds_end": null,
"cds_length": 654,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 1662,
"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.*286C>T",
"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.447C>T",
"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.411C>T",
"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.424C>T",
"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.526C>T",
"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.426C>T",
"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.*100C>T",
"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.*140C>T",
"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.*140C>T",
"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.*140C>T",
"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.*286C>T",
"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.*1574C>T",
"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": "rs1555564032",
"frequency_reference_population": 0.0000065693525,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656935,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.816261887550354,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.734,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6411,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.873,
"phylop100way_prediction": "Pathogenic",
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000312280.9",
"gene_symbol": "PMP22",
"hgnc_id": 9118,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Pro144Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}