← 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: 5-37125280-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=37125280&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 37125280,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000651892.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8922G>A",
"hgvs_p": "p.Gly2974Gly",
"transcript": "NM_001384732.1",
"protein_id": "NP_001371661.1",
"transcript_support_level": null,
"aa_start": 2974,
"aa_end": null,
"aa_length": 3251,
"cds_start": 8922,
"cds_end": null,
"cds_length": 9756,
"cdna_start": 9101,
"cdna_end": null,
"cdna_length": 11302,
"mane_select": "ENST00000651892.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8922G>A",
"hgvs_p": "p.Gly2974Gly",
"transcript": "ENST00000651892.2",
"protein_id": "ENSP00000498265.2",
"transcript_support_level": null,
"aa_start": 2974,
"aa_end": null,
"aa_length": 3251,
"cds_start": 8922,
"cds_end": null,
"cds_length": 9756,
"cdna_start": 9101,
"cdna_end": null,
"cdna_length": 11302,
"mane_select": "NM_001384732.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.5958G>A",
"hgvs_p": "p.Gly1986Gly",
"transcript": "ENST00000514429.5",
"protein_id": "ENSP00000424223.1",
"transcript_support_level": 1,
"aa_start": 1986,
"aa_end": null,
"aa_length": 2263,
"cds_start": 5958,
"cds_end": null,
"cds_length": 6792,
"cdna_start": 5958,
"cdna_end": null,
"cdna_length": 7416,
"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": 31,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "n.*264G>A",
"hgvs_p": null,
"transcript": "ENST00000509849.5",
"protein_id": "ENSP00000426337.1",
"transcript_support_level": 1,
"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": 7392,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "n.4103G>A",
"hgvs_p": null,
"transcript": "ENST00000509957.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 4282,
"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": 31,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "n.*264G>A",
"hgvs_p": null,
"transcript": "ENST00000509849.5",
"protein_id": "ENSP00000426337.1",
"transcript_support_level": 1,
"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": 7392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8760G>A",
"hgvs_p": "p.Gly2920Gly",
"transcript": "NM_023073.4",
"protein_id": "NP_075561.3",
"transcript_support_level": null,
"aa_start": 2920,
"aa_end": null,
"aa_length": 3197,
"cds_start": 8760,
"cds_end": null,
"cds_length": 9594,
"cdna_start": 8939,
"cdna_end": null,
"cdna_length": 11140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8760G>A",
"hgvs_p": "p.Gly2920Gly",
"transcript": "ENST00000508244.5",
"protein_id": "ENSP00000421690.1",
"transcript_support_level": 5,
"aa_start": 2920,
"aa_end": null,
"aa_length": 3197,
"cds_start": 8760,
"cds_end": null,
"cds_length": 9594,
"cdna_start": 8854,
"cdna_end": null,
"cdna_length": 11062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8922G>A",
"hgvs_p": "p.Gly2974Gly",
"transcript": "XM_011514085.4",
"protein_id": "XP_011512387.1",
"transcript_support_level": null,
"aa_start": 2974,
"aa_end": null,
"aa_length": 3251,
"cds_start": 8922,
"cds_end": null,
"cds_length": 9756,
"cdna_start": 9500,
"cdna_end": null,
"cdna_length": 11701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8922G>A",
"hgvs_p": "p.Gly2974Gly",
"transcript": "XM_011514086.4",
"protein_id": "XP_011512388.1",
"transcript_support_level": null,
"aa_start": 2974,
"aa_end": null,
"aa_length": 3251,
"cds_start": 8922,
"cds_end": null,
"cds_length": 9756,
"cdna_start": 9144,
"cdna_end": null,
"cdna_length": 11345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8919G>A",
"hgvs_p": "p.Gly2973Gly",
"transcript": "XM_005248346.5",
"protein_id": "XP_005248403.1",
"transcript_support_level": null,
"aa_start": 2973,
"aa_end": null,
"aa_length": 3250,
"cds_start": 8919,
"cds_end": null,
"cds_length": 9753,
"cdna_start": 9098,
"cdna_end": null,
"cdna_length": 11299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8919G>A",
"hgvs_p": "p.Gly2973Gly",
"transcript": "XM_005248347.5",
"protein_id": "XP_005248404.1",
"transcript_support_level": null,
"aa_start": 2973,
"aa_end": null,
"aa_length": 3250,
"cds_start": 8919,
"cds_end": null,
"cds_length": 9753,
"cdna_start": 9098,
"cdna_end": null,
"cdna_length": 11299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8919G>A",
"hgvs_p": "p.Gly2973Gly",
"transcript": "XM_047417541.1",
"protein_id": "XP_047273497.1",
"transcript_support_level": null,
"aa_start": 2973,
"aa_end": null,
"aa_length": 3250,
"cds_start": 8919,
"cds_end": null,
"cds_length": 9753,
"cdna_start": 9141,
"cdna_end": null,
"cdna_length": 11342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8919G>A",
"hgvs_p": "p.Gly2973Gly",
"transcript": "XM_047417542.1",
"protein_id": "XP_047273498.1",
"transcript_support_level": null,
"aa_start": 2973,
"aa_end": null,
"aa_length": 3250,
"cds_start": 8919,
"cds_end": null,
"cds_length": 9753,
"cdna_start": 9141,
"cdna_end": null,
"cdna_length": 11342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8919G>A",
"hgvs_p": "p.Gly2973Gly",
"transcript": "XM_047417543.1",
"protein_id": "XP_047273499.1",
"transcript_support_level": null,
"aa_start": 2973,
"aa_end": null,
"aa_length": 3250,
"cds_start": 8919,
"cds_end": null,
"cds_length": 9753,
"cdna_start": 9497,
"cdna_end": null,
"cdna_length": 11698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8919G>A",
"hgvs_p": "p.Gly2973Gly",
"transcript": "XM_047417544.1",
"protein_id": "XP_047273500.1",
"transcript_support_level": null,
"aa_start": 2973,
"aa_end": null,
"aa_length": 3250,
"cds_start": 8919,
"cds_end": null,
"cds_length": 9753,
"cdna_start": 9497,
"cdna_end": null,
"cdna_length": 11698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8916G>A",
"hgvs_p": "p.Gly2972Gly",
"transcript": "XM_006714491.4",
"protein_id": "XP_006714554.2",
"transcript_support_level": null,
"aa_start": 2972,
"aa_end": null,
"aa_length": 3249,
"cds_start": 8916,
"cds_end": null,
"cds_length": 9750,
"cdna_start": 9095,
"cdna_end": null,
"cdna_length": 11296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8868G>A",
"hgvs_p": "p.Gly2956Gly",
"transcript": "XM_011514087.3",
"protein_id": "XP_011512389.1",
"transcript_support_level": null,
"aa_start": 2956,
"aa_end": null,
"aa_length": 3233,
"cds_start": 8868,
"cds_end": null,
"cds_length": 9702,
"cdna_start": 9047,
"cdna_end": null,
"cdna_length": 11248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8868G>A",
"hgvs_p": "p.Gly2956Gly",
"transcript": "XM_047417545.1",
"protein_id": "XP_047273501.1",
"transcript_support_level": null,
"aa_start": 2956,
"aa_end": null,
"aa_length": 3233,
"cds_start": 8868,
"cds_end": null,
"cds_length": 9702,
"cdna_start": 9090,
"cdna_end": null,
"cdna_length": 11291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8865G>A",
"hgvs_p": "p.Gly2955Gly",
"transcript": "XM_047417547.1",
"protein_id": "XP_047273503.1",
"transcript_support_level": null,
"aa_start": 2955,
"aa_end": null,
"aa_length": 3232,
"cds_start": 8865,
"cds_end": null,
"cds_length": 9699,
"cdna_start": 9044,
"cdna_end": null,
"cdna_length": 11245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8865G>A",
"hgvs_p": "p.Gly2955Gly",
"transcript": "XM_047417548.1",
"protein_id": "XP_047273504.1",
"transcript_support_level": null,
"aa_start": 2955,
"aa_end": null,
"aa_length": 3232,
"cds_start": 8865,
"cds_end": null,
"cds_length": 9699,
"cdna_start": 9443,
"cdna_end": null,
"cdna_length": 11644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8865G>A",
"hgvs_p": "p.Gly2955Gly",
"transcript": "XM_047417549.1",
"protein_id": "XP_047273505.1",
"transcript_support_level": null,
"aa_start": 2955,
"aa_end": null,
"aa_length": 3232,
"cds_start": 8865,
"cds_end": null,
"cds_length": 9699,
"cdna_start": 9044,
"cdna_end": null,
"cdna_length": 11245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8814G>A",
"hgvs_p": "p.Gly2938Gly",
"transcript": "XM_011514088.3",
"protein_id": "XP_011512390.1",
"transcript_support_level": null,
"aa_start": 2938,
"aa_end": null,
"aa_length": 3215,
"cds_start": 8814,
"cds_end": null,
"cds_length": 9648,
"cdna_start": 8993,
"cdna_end": null,
"cdna_length": 11194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8814G>A",
"hgvs_p": "p.Gly2938Gly",
"transcript": "XM_047417550.1",
"protein_id": "XP_047273506.1",
"transcript_support_level": null,
"aa_start": 2938,
"aa_end": null,
"aa_length": 3215,
"cds_start": 8814,
"cds_end": null,
"cds_length": 9648,
"cdna_start": 9392,
"cdna_end": null,
"cdna_length": 11593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8814G>A",
"hgvs_p": "p.Gly2938Gly",
"transcript": "XM_047417551.1",
"protein_id": "XP_047273507.1",
"transcript_support_level": null,
"aa_start": 2938,
"aa_end": null,
"aa_length": 3215,
"cds_start": 8814,
"cds_end": null,
"cds_length": 9648,
"cdna_start": 9036,
"cdna_end": null,
"cdna_length": 11237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8811G>A",
"hgvs_p": "p.Gly2937Gly",
"transcript": "XM_005248349.5",
"protein_id": "XP_005248406.1",
"transcript_support_level": null,
"aa_start": 2937,
"aa_end": null,
"aa_length": 3214,
"cds_start": 8811,
"cds_end": null,
"cds_length": 9645,
"cdna_start": 8990,
"cdna_end": null,
"cdna_length": 11191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8811G>A",
"hgvs_p": "p.Gly2937Gly",
"transcript": "XM_047417552.1",
"protein_id": "XP_047273508.1",
"transcript_support_level": null,
"aa_start": 2937,
"aa_end": null,
"aa_length": 3214,
"cds_start": 8811,
"cds_end": null,
"cds_length": 9645,
"cdna_start": 9033,
"cdna_end": null,
"cdna_length": 11234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8811G>A",
"hgvs_p": "p.Gly2937Gly",
"transcript": "XM_047417553.1",
"protein_id": "XP_047273509.1",
"transcript_support_level": null,
"aa_start": 2937,
"aa_end": null,
"aa_length": 3214,
"cds_start": 8811,
"cds_end": null,
"cds_length": 9645,
"cdna_start": 8990,
"cdna_end": null,
"cdna_length": 11191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8811G>A",
"hgvs_p": "p.Gly2937Gly",
"transcript": "XM_047417554.1",
"protein_id": "XP_047273510.1",
"transcript_support_level": null,
"aa_start": 2937,
"aa_end": null,
"aa_length": 3214,
"cds_start": 8811,
"cds_end": null,
"cds_length": 9645,
"cdna_start": 9389,
"cdna_end": null,
"cdna_length": 11590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8811G>A",
"hgvs_p": "p.Gly2937Gly",
"transcript": "XM_047417556.1",
"protein_id": "XP_047273512.1",
"transcript_support_level": null,
"aa_start": 2937,
"aa_end": null,
"aa_length": 3214,
"cds_start": 8811,
"cds_end": null,
"cds_length": 9645,
"cdna_start": 9389,
"cdna_end": null,
"cdna_length": 11590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8808G>A",
"hgvs_p": "p.Gly2936Gly",
"transcript": "XM_047417557.1",
"protein_id": "XP_047273513.1",
"transcript_support_level": null,
"aa_start": 2936,
"aa_end": null,
"aa_length": 3213,
"cds_start": 8808,
"cds_end": null,
"cds_length": 9642,
"cdna_start": 8987,
"cdna_end": null,
"cdna_length": 11188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8793G>A",
"hgvs_p": "p.Gly2931Gly",
"transcript": "XM_005248350.5",
"protein_id": "XP_005248407.1",
"transcript_support_level": null,
"aa_start": 2931,
"aa_end": null,
"aa_length": 3208,
"cds_start": 8793,
"cds_end": null,
"cds_length": 9627,
"cdna_start": 8972,
"cdna_end": null,
"cdna_length": 11173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8793G>A",
"hgvs_p": "p.Gly2931Gly",
"transcript": "XM_047417558.1",
"protein_id": "XP_047273514.1",
"transcript_support_level": null,
"aa_start": 2931,
"aa_end": null,
"aa_length": 3208,
"cds_start": 8793,
"cds_end": null,
"cds_length": 9627,
"cdna_start": 9015,
"cdna_end": null,
"cdna_length": 11216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8790G>A",
"hgvs_p": "p.Gly2930Gly",
"transcript": "XM_047417559.1",
"protein_id": "XP_047273515.1",
"transcript_support_level": null,
"aa_start": 2930,
"aa_end": null,
"aa_length": 3207,
"cds_start": 8790,
"cds_end": null,
"cds_length": 9624,
"cdna_start": 8969,
"cdna_end": null,
"cdna_length": 11170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8790G>A",
"hgvs_p": "p.Gly2930Gly",
"transcript": "XM_047417560.1",
"protein_id": "XP_047273516.1",
"transcript_support_level": null,
"aa_start": 2930,
"aa_end": null,
"aa_length": 3207,
"cds_start": 8790,
"cds_end": null,
"cds_length": 9624,
"cdna_start": 8969,
"cdna_end": null,
"cdna_length": 11170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8922G>A",
"hgvs_p": "p.Gly2974Gly",
"transcript": "XM_047417561.1",
"protein_id": "XP_047273517.1",
"transcript_support_level": null,
"aa_start": 2974,
"aa_end": null,
"aa_length": 3199,
"cds_start": 8922,
"cds_end": null,
"cds_length": 9600,
"cdna_start": 9144,
"cdna_end": null,
"cdna_length": 13954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8922G>A",
"hgvs_p": "p.Gly2974Gly",
"transcript": "XM_047417562.1",
"protein_id": "XP_047273518.1",
"transcript_support_level": null,
"aa_start": 2974,
"aa_end": null,
"aa_length": 3199,
"cds_start": 8922,
"cds_end": null,
"cds_length": 9600,
"cdna_start": 9500,
"cdna_end": null,
"cdna_length": 14310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8757G>A",
"hgvs_p": "p.Gly2919Gly",
"transcript": "XM_047417563.1",
"protein_id": "XP_047273519.1",
"transcript_support_level": null,
"aa_start": 2919,
"aa_end": null,
"aa_length": 3196,
"cds_start": 8757,
"cds_end": null,
"cds_length": 9591,
"cdna_start": 8936,
"cdna_end": null,
"cdna_length": 11137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8757G>A",
"hgvs_p": "p.Gly2919Gly",
"transcript": "XM_047417564.1",
"protein_id": "XP_047273520.1",
"transcript_support_level": null,
"aa_start": 2919,
"aa_end": null,
"aa_length": 3196,
"cds_start": 8757,
"cds_end": null,
"cds_length": 9591,
"cdna_start": 8936,
"cdna_end": null,
"cdna_length": 11137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8733G>A",
"hgvs_p": "p.Gly2911Gly",
"transcript": "XM_017009761.3",
"protein_id": "XP_016865250.1",
"transcript_support_level": null,
"aa_start": 2911,
"aa_end": null,
"aa_length": 3188,
"cds_start": 8733,
"cds_end": null,
"cds_length": 9567,
"cdna_start": 8884,
"cdna_end": null,
"cdna_length": 11085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8733G>A",
"hgvs_p": "p.Gly2911Gly",
"transcript": "XM_024446183.2",
"protein_id": "XP_024301951.1",
"transcript_support_level": null,
"aa_start": 2911,
"aa_end": null,
"aa_length": 3188,
"cds_start": 8733,
"cds_end": null,
"cds_length": 9567,
"cdna_start": 9364,
"cdna_end": null,
"cdna_length": 11565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8733G>A",
"hgvs_p": "p.Gly2911Gly",
"transcript": "XM_047417566.1",
"protein_id": "XP_047273522.1",
"transcript_support_level": null,
"aa_start": 2911,
"aa_end": null,
"aa_length": 3188,
"cds_start": 8733,
"cds_end": null,
"cds_length": 9567,
"cdna_start": 8965,
"cdna_end": null,
"cdna_length": 11166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8733G>A",
"hgvs_p": "p.Gly2911Gly",
"transcript": "XM_047417567.1",
"protein_id": "XP_047273523.1",
"transcript_support_level": null,
"aa_start": 2911,
"aa_end": null,
"aa_length": 3188,
"cds_start": 8733,
"cds_end": null,
"cds_length": 9567,
"cdna_start": 9008,
"cdna_end": null,
"cdna_length": 11209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8868G>A",
"hgvs_p": "p.Gly2956Gly",
"transcript": "XM_047417568.1",
"protein_id": "XP_047273524.1",
"transcript_support_level": null,
"aa_start": 2956,
"aa_end": null,
"aa_length": 3181,
"cds_start": 8868,
"cds_end": null,
"cds_length": 9546,
"cdna_start": 9047,
"cdna_end": null,
"cdna_length": 13857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8682G>A",
"hgvs_p": "p.Gly2894Gly",
"transcript": "XM_047417569.1",
"protein_id": "XP_047273525.1",
"transcript_support_level": null,
"aa_start": 2894,
"aa_end": null,
"aa_length": 3171,
"cds_start": 8682,
"cds_end": null,
"cds_length": 9516,
"cdna_start": 8904,
"cdna_end": null,
"cdna_length": 11105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8679G>A",
"hgvs_p": "p.Gly2893Gly",
"transcript": "XM_047417570.1",
"protein_id": "XP_047273526.1",
"transcript_support_level": null,
"aa_start": 2893,
"aa_end": null,
"aa_length": 3170,
"cds_start": 8679,
"cds_end": null,
"cds_length": 9513,
"cdna_start": 8911,
"cdna_end": null,
"cdna_length": 11112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8814G>A",
"hgvs_p": "p.Gly2938Gly",
"transcript": "XM_047417571.1",
"protein_id": "XP_047273527.1",
"transcript_support_level": null,
"aa_start": 2938,
"aa_end": null,
"aa_length": 3163,
"cds_start": 8814,
"cds_end": null,
"cds_length": 9492,
"cdna_start": 8993,
"cdna_end": null,
"cdna_length": 13803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8811G>A",
"hgvs_p": "p.Gly2937Gly",
"transcript": "XM_047417572.1",
"protein_id": "XP_047273528.1",
"transcript_support_level": null,
"aa_start": 2937,
"aa_end": null,
"aa_length": 3162,
"cds_start": 8811,
"cds_end": null,
"cds_length": 9489,
"cdna_start": 8990,
"cdna_end": null,
"cdna_length": 13800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8604G>A",
"hgvs_p": "p.Gly2868Gly",
"transcript": "XM_011514090.4",
"protein_id": "XP_011512392.1",
"transcript_support_level": null,
"aa_start": 2868,
"aa_end": null,
"aa_length": 3145,
"cds_start": 8604,
"cds_end": null,
"cds_length": 9438,
"cdna_start": 9020,
"cdna_end": null,
"cdna_length": 11221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8760G>A",
"hgvs_p": "p.Gly2920Gly",
"transcript": "XM_047417573.1",
"protein_id": "XP_047273529.1",
"transcript_support_level": null,
"aa_start": 2920,
"aa_end": null,
"aa_length": 3145,
"cds_start": 8760,
"cds_end": null,
"cds_length": 9438,
"cdna_start": 8939,
"cdna_end": null,
"cdna_length": 13749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8754G>A",
"hgvs_p": "p.Gly2918Gly",
"transcript": "XM_047417575.1",
"protein_id": "XP_047273531.1",
"transcript_support_level": null,
"aa_start": 2918,
"aa_end": null,
"aa_length": 3143,
"cds_start": 8754,
"cds_end": null,
"cds_length": 9432,
"cdna_start": 8933,
"cdna_end": null,
"cdna_length": 13743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8250G>A",
"hgvs_p": "p.Gly2750Gly",
"transcript": "XM_047417576.1",
"protein_id": "XP_047273532.1",
"transcript_support_level": null,
"aa_start": 2750,
"aa_end": null,
"aa_length": 3027,
"cds_start": 8250,
"cds_end": null,
"cds_length": 9084,
"cdna_start": 8352,
"cdna_end": null,
"cdna_length": 10553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8919G>A",
"hgvs_p": "p.Gly2973Gly",
"transcript": "XM_047417577.1",
"protein_id": "XP_047273533.1",
"transcript_support_level": null,
"aa_start": 2973,
"aa_end": null,
"aa_length": 3022,
"cds_start": 8919,
"cds_end": null,
"cds_length": 9069,
"cdna_start": 9098,
"cdna_end": null,
"cdna_length": 9566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.7929G>A",
"hgvs_p": "p.Gly2643Gly",
"transcript": "XM_047417578.1",
"protein_id": "XP_047273534.1",
"transcript_support_level": null,
"aa_start": 2643,
"aa_end": null,
"aa_length": 2920,
"cds_start": 7929,
"cds_end": null,
"cds_length": 8763,
"cdna_start": 8334,
"cdna_end": null,
"cdna_length": 10535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.5565G>A",
"hgvs_p": "p.Gly1855Gly",
"transcript": "XM_017009766.2",
"protein_id": "XP_016865255.1",
"transcript_support_level": null,
"aa_start": 1855,
"aa_end": null,
"aa_length": 2132,
"cds_start": 5565,
"cds_end": null,
"cds_length": 6399,
"cdna_start": 5721,
"cdna_end": null,
"cdna_length": 7922,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "n.1921G>A",
"hgvs_p": null,
"transcript": "ENST00000510830.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 2455,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "n.783G>A",
"hgvs_p": null,
"transcript": "ENST00000676160.1",
"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": 3545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "n.342-3496G>A",
"hgvs_p": null,
"transcript": "ENST00000512288.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"dbsnp": "rs370013757",
"frequency_reference_population": 6.8415176e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84152e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.41999998688697815,
"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": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.234,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000651892.2",
"gene_symbol": "CPLANE1",
"hgnc_id": 25801,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.8922G>A",
"hgvs_p": "p.Gly2974Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}