← 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: 5-37138773-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=37138773&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 37138773,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001384732.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8739C>T",
"hgvs_p": "p.Asp2913Asp",
"transcript": "NM_001384732.1",
"protein_id": "NP_001371661.1",
"transcript_support_level": null,
"aa_start": 2913,
"aa_end": null,
"aa_length": 3251,
"cds_start": 8739,
"cds_end": null,
"cds_length": 9756,
"cdna_start": 8918,
"cdna_end": null,
"cdna_length": 11302,
"mane_select": "ENST00000651892.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384732.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8739C>T",
"hgvs_p": "p.Asp2913Asp",
"transcript": "ENST00000651892.2",
"protein_id": "ENSP00000498265.2",
"transcript_support_level": null,
"aa_start": 2913,
"aa_end": null,
"aa_length": 3251,
"cds_start": 8739,
"cds_end": null,
"cds_length": 9756,
"cdna_start": 8918,
"cdna_end": null,
"cdna_length": 11302,
"mane_select": "NM_001384732.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651892.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.5775C>T",
"hgvs_p": "p.Asp1925Asp",
"transcript": "ENST00000514429.5",
"protein_id": "ENSP00000424223.1",
"transcript_support_level": 1,
"aa_start": 1925,
"aa_end": null,
"aa_length": 2263,
"cds_start": 5775,
"cds_end": null,
"cds_length": 6792,
"cdna_start": 5775,
"cdna_end": null,
"cdna_length": 7416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514429.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "n.*50C>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7392,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000509849.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "n.3920C>T",
"hgvs_p": null,
"transcript": "ENST00000509957.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4282,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000509957.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "n.*50C>T",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7392,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000509849.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8736C>T",
"hgvs_p": "p.Asp2912Asp",
"transcript": "ENST00000955438.1",
"protein_id": "ENSP00000625497.1",
"transcript_support_level": null,
"aa_start": 2912,
"aa_end": null,
"aa_length": 3250,
"cds_start": 8736,
"cds_end": null,
"cds_length": 9753,
"cdna_start": 8936,
"cdna_end": null,
"cdna_length": 10285,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955438.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8577C>T",
"hgvs_p": "p.Asp2859Asp",
"transcript": "NM_023073.4",
"protein_id": "NP_075561.3",
"transcript_support_level": null,
"aa_start": 2859,
"aa_end": null,
"aa_length": 3197,
"cds_start": 8577,
"cds_end": null,
"cds_length": 9594,
"cdna_start": 8756,
"cdna_end": null,
"cdna_length": 11140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023073.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8577C>T",
"hgvs_p": "p.Asp2859Asp",
"transcript": "ENST00000508244.5",
"protein_id": "ENSP00000421690.1",
"transcript_support_level": 5,
"aa_start": 2859,
"aa_end": null,
"aa_length": 3197,
"cds_start": 8577,
"cds_end": null,
"cds_length": 9594,
"cdna_start": 8671,
"cdna_end": null,
"cdna_length": 11062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508244.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8502C>T",
"hgvs_p": "p.Asp2834Asp",
"transcript": "ENST00000913843.1",
"protein_id": "ENSP00000583902.1",
"transcript_support_level": null,
"aa_start": 2834,
"aa_end": null,
"aa_length": 3172,
"cds_start": 8502,
"cds_end": null,
"cds_length": 9519,
"cdna_start": 8705,
"cdna_end": null,
"cdna_length": 11083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913843.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8739C>T",
"hgvs_p": "p.Asp2913Asp",
"transcript": "XM_011514085.4",
"protein_id": "XP_011512387.1",
"transcript_support_level": null,
"aa_start": 2913,
"aa_end": null,
"aa_length": 3251,
"cds_start": 8739,
"cds_end": null,
"cds_length": 9756,
"cdna_start": 9317,
"cdna_end": null,
"cdna_length": 11701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514085.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8739C>T",
"hgvs_p": "p.Asp2913Asp",
"transcript": "XM_011514086.4",
"protein_id": "XP_011512388.1",
"transcript_support_level": null,
"aa_start": 2913,
"aa_end": null,
"aa_length": 3251,
"cds_start": 8739,
"cds_end": null,
"cds_length": 9756,
"cdna_start": 8961,
"cdna_end": null,
"cdna_length": 11345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514086.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8736C>T",
"hgvs_p": "p.Asp2912Asp",
"transcript": "XM_005248346.5",
"protein_id": "XP_005248403.1",
"transcript_support_level": null,
"aa_start": 2912,
"aa_end": null,
"aa_length": 3250,
"cds_start": 8736,
"cds_end": null,
"cds_length": 9753,
"cdna_start": 8915,
"cdna_end": null,
"cdna_length": 11299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248346.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8736C>T",
"hgvs_p": "p.Asp2912Asp",
"transcript": "XM_005248347.5",
"protein_id": "XP_005248404.1",
"transcript_support_level": null,
"aa_start": 2912,
"aa_end": null,
"aa_length": 3250,
"cds_start": 8736,
"cds_end": null,
"cds_length": 9753,
"cdna_start": 8915,
"cdna_end": null,
"cdna_length": 11299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248347.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8736C>T",
"hgvs_p": "p.Asp2912Asp",
"transcript": "XM_047417541.1",
"protein_id": "XP_047273497.1",
"transcript_support_level": null,
"aa_start": 2912,
"aa_end": null,
"aa_length": 3250,
"cds_start": 8736,
"cds_end": null,
"cds_length": 9753,
"cdna_start": 8958,
"cdna_end": null,
"cdna_length": 11342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417541.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8736C>T",
"hgvs_p": "p.Asp2912Asp",
"transcript": "XM_047417542.1",
"protein_id": "XP_047273498.1",
"transcript_support_level": null,
"aa_start": 2912,
"aa_end": null,
"aa_length": 3250,
"cds_start": 8736,
"cds_end": null,
"cds_length": 9753,
"cdna_start": 8958,
"cdna_end": null,
"cdna_length": 11342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417542.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8736C>T",
"hgvs_p": "p.Asp2912Asp",
"transcript": "XM_047417543.1",
"protein_id": "XP_047273499.1",
"transcript_support_level": null,
"aa_start": 2912,
"aa_end": null,
"aa_length": 3250,
"cds_start": 8736,
"cds_end": null,
"cds_length": 9753,
"cdna_start": 9314,
"cdna_end": null,
"cdna_length": 11698,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417543.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8736C>T",
"hgvs_p": "p.Asp2912Asp",
"transcript": "XM_047417544.1",
"protein_id": "XP_047273500.1",
"transcript_support_level": null,
"aa_start": 2912,
"aa_end": null,
"aa_length": 3250,
"cds_start": 8736,
"cds_end": null,
"cds_length": 9753,
"cdna_start": 9314,
"cdna_end": null,
"cdna_length": 11698,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417544.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8733C>T",
"hgvs_p": "p.Asp2911Asp",
"transcript": "XM_006714491.4",
"protein_id": "XP_006714554.2",
"transcript_support_level": null,
"aa_start": 2911,
"aa_end": null,
"aa_length": 3249,
"cds_start": 8733,
"cds_end": null,
"cds_length": 9750,
"cdna_start": 8912,
"cdna_end": null,
"cdna_length": 11296,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714491.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8685C>T",
"hgvs_p": "p.Asp2895Asp",
"transcript": "XM_011514087.3",
"protein_id": "XP_011512389.1",
"transcript_support_level": null,
"aa_start": 2895,
"aa_end": null,
"aa_length": 3233,
"cds_start": 8685,
"cds_end": null,
"cds_length": 9702,
"cdna_start": 8864,
"cdna_end": null,
"cdna_length": 11248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514087.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8685C>T",
"hgvs_p": "p.Asp2895Asp",
"transcript": "XM_047417545.1",
"protein_id": "XP_047273501.1",
"transcript_support_level": null,
"aa_start": 2895,
"aa_end": null,
"aa_length": 3233,
"cds_start": 8685,
"cds_end": null,
"cds_length": 9702,
"cdna_start": 8907,
"cdna_end": null,
"cdna_length": 11291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417545.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8682C>T",
"hgvs_p": "p.Asp2894Asp",
"transcript": "XM_047417547.1",
"protein_id": "XP_047273503.1",
"transcript_support_level": null,
"aa_start": 2894,
"aa_end": null,
"aa_length": 3232,
"cds_start": 8682,
"cds_end": null,
"cds_length": 9699,
"cdna_start": 8861,
"cdna_end": null,
"cdna_length": 11245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417547.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8682C>T",
"hgvs_p": "p.Asp2894Asp",
"transcript": "XM_047417548.1",
"protein_id": "XP_047273504.1",
"transcript_support_level": null,
"aa_start": 2894,
"aa_end": null,
"aa_length": 3232,
"cds_start": 8682,
"cds_end": null,
"cds_length": 9699,
"cdna_start": 9260,
"cdna_end": null,
"cdna_length": 11644,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417548.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8682C>T",
"hgvs_p": "p.Asp2894Asp",
"transcript": "XM_047417549.1",
"protein_id": "XP_047273505.1",
"transcript_support_level": null,
"aa_start": 2894,
"aa_end": null,
"aa_length": 3232,
"cds_start": 8682,
"cds_end": null,
"cds_length": 9699,
"cdna_start": 8861,
"cdna_end": null,
"cdna_length": 11245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417549.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8631C>T",
"hgvs_p": "p.Asp2877Asp",
"transcript": "XM_011514088.3",
"protein_id": "XP_011512390.1",
"transcript_support_level": null,
"aa_start": 2877,
"aa_end": null,
"aa_length": 3215,
"cds_start": 8631,
"cds_end": null,
"cds_length": 9648,
"cdna_start": 8810,
"cdna_end": null,
"cdna_length": 11194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514088.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8631C>T",
"hgvs_p": "p.Asp2877Asp",
"transcript": "XM_047417550.1",
"protein_id": "XP_047273506.1",
"transcript_support_level": null,
"aa_start": 2877,
"aa_end": null,
"aa_length": 3215,
"cds_start": 8631,
"cds_end": null,
"cds_length": 9648,
"cdna_start": 9209,
"cdna_end": null,
"cdna_length": 11593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417550.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8631C>T",
"hgvs_p": "p.Asp2877Asp",
"transcript": "XM_047417551.1",
"protein_id": "XP_047273507.1",
"transcript_support_level": null,
"aa_start": 2877,
"aa_end": null,
"aa_length": 3215,
"cds_start": 8631,
"cds_end": null,
"cds_length": 9648,
"cdna_start": 8853,
"cdna_end": null,
"cdna_length": 11237,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417551.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8628C>T",
"hgvs_p": "p.Asp2876Asp",
"transcript": "XM_005248349.5",
"protein_id": "XP_005248406.1",
"transcript_support_level": null,
"aa_start": 2876,
"aa_end": null,
"aa_length": 3214,
"cds_start": 8628,
"cds_end": null,
"cds_length": 9645,
"cdna_start": 8807,
"cdna_end": null,
"cdna_length": 11191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248349.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8628C>T",
"hgvs_p": "p.Asp2876Asp",
"transcript": "XM_047417552.1",
"protein_id": "XP_047273508.1",
"transcript_support_level": null,
"aa_start": 2876,
"aa_end": null,
"aa_length": 3214,
"cds_start": 8628,
"cds_end": null,
"cds_length": 9645,
"cdna_start": 8850,
"cdna_end": null,
"cdna_length": 11234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417552.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8628C>T",
"hgvs_p": "p.Asp2876Asp",
"transcript": "XM_047417553.1",
"protein_id": "XP_047273509.1",
"transcript_support_level": null,
"aa_start": 2876,
"aa_end": null,
"aa_length": 3214,
"cds_start": 8628,
"cds_end": null,
"cds_length": 9645,
"cdna_start": 8807,
"cdna_end": null,
"cdna_length": 11191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417553.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8628C>T",
"hgvs_p": "p.Asp2876Asp",
"transcript": "XM_047417554.1",
"protein_id": "XP_047273510.1",
"transcript_support_level": null,
"aa_start": 2876,
"aa_end": null,
"aa_length": 3214,
"cds_start": 8628,
"cds_end": null,
"cds_length": 9645,
"cdna_start": 9206,
"cdna_end": null,
"cdna_length": 11590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417554.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8628C>T",
"hgvs_p": "p.Asp2876Asp",
"transcript": "XM_047417556.1",
"protein_id": "XP_047273512.1",
"transcript_support_level": null,
"aa_start": 2876,
"aa_end": null,
"aa_length": 3214,
"cds_start": 8628,
"cds_end": null,
"cds_length": 9645,
"cdna_start": 9206,
"cdna_end": null,
"cdna_length": 11590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417556.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8625C>T",
"hgvs_p": "p.Asp2875Asp",
"transcript": "XM_047417557.1",
"protein_id": "XP_047273513.1",
"transcript_support_level": null,
"aa_start": 2875,
"aa_end": null,
"aa_length": 3213,
"cds_start": 8625,
"cds_end": null,
"cds_length": 9642,
"cdna_start": 8804,
"cdna_end": null,
"cdna_length": 11188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417557.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8610C>T",
"hgvs_p": "p.Asp2870Asp",
"transcript": "XM_005248350.5",
"protein_id": "XP_005248407.1",
"transcript_support_level": null,
"aa_start": 2870,
"aa_end": null,
"aa_length": 3208,
"cds_start": 8610,
"cds_end": null,
"cds_length": 9627,
"cdna_start": 8789,
"cdna_end": null,
"cdna_length": 11173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248350.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8610C>T",
"hgvs_p": "p.Asp2870Asp",
"transcript": "XM_047417558.1",
"protein_id": "XP_047273514.1",
"transcript_support_level": null,
"aa_start": 2870,
"aa_end": null,
"aa_length": 3208,
"cds_start": 8610,
"cds_end": null,
"cds_length": 9627,
"cdna_start": 8832,
"cdna_end": null,
"cdna_length": 11216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417558.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8607C>T",
"hgvs_p": "p.Asp2869Asp",
"transcript": "XM_047417559.1",
"protein_id": "XP_047273515.1",
"transcript_support_level": null,
"aa_start": 2869,
"aa_end": null,
"aa_length": 3207,
"cds_start": 8607,
"cds_end": null,
"cds_length": 9624,
"cdna_start": 8786,
"cdna_end": null,
"cdna_length": 11170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417559.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8607C>T",
"hgvs_p": "p.Asp2869Asp",
"transcript": "XM_047417560.1",
"protein_id": "XP_047273516.1",
"transcript_support_level": null,
"aa_start": 2869,
"aa_end": null,
"aa_length": 3207,
"cds_start": 8607,
"cds_end": null,
"cds_length": 9624,
"cdna_start": 8786,
"cdna_end": null,
"cdna_length": 11170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417560.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8739C>T",
"hgvs_p": "p.Asp2913Asp",
"transcript": "XM_047417561.1",
"protein_id": "XP_047273517.1",
"transcript_support_level": null,
"aa_start": 2913,
"aa_end": null,
"aa_length": 3199,
"cds_start": 8739,
"cds_end": null,
"cds_length": 9600,
"cdna_start": 8961,
"cdna_end": null,
"cdna_length": 13954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417561.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8739C>T",
"hgvs_p": "p.Asp2913Asp",
"transcript": "XM_047417562.1",
"protein_id": "XP_047273518.1",
"transcript_support_level": null,
"aa_start": 2913,
"aa_end": null,
"aa_length": 3199,
"cds_start": 8739,
"cds_end": null,
"cds_length": 9600,
"cdna_start": 9317,
"cdna_end": null,
"cdna_length": 14310,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417562.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8574C>T",
"hgvs_p": "p.Asp2858Asp",
"transcript": "XM_047417563.1",
"protein_id": "XP_047273519.1",
"transcript_support_level": null,
"aa_start": 2858,
"aa_end": null,
"aa_length": 3196,
"cds_start": 8574,
"cds_end": null,
"cds_length": 9591,
"cdna_start": 8753,
"cdna_end": null,
"cdna_length": 11137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417563.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8574C>T",
"hgvs_p": "p.Asp2858Asp",
"transcript": "XM_047417564.1",
"protein_id": "XP_047273520.1",
"transcript_support_level": null,
"aa_start": 2858,
"aa_end": null,
"aa_length": 3196,
"cds_start": 8574,
"cds_end": null,
"cds_length": 9591,
"cdna_start": 8753,
"cdna_end": null,
"cdna_length": 11137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417564.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8550C>T",
"hgvs_p": "p.Asp2850Asp",
"transcript": "XM_017009761.3",
"protein_id": "XP_016865250.1",
"transcript_support_level": null,
"aa_start": 2850,
"aa_end": null,
"aa_length": 3188,
"cds_start": 8550,
"cds_end": null,
"cds_length": 9567,
"cdna_start": 8701,
"cdna_end": null,
"cdna_length": 11085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009761.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8550C>T",
"hgvs_p": "p.Asp2850Asp",
"transcript": "XM_024446183.2",
"protein_id": "XP_024301951.1",
"transcript_support_level": null,
"aa_start": 2850,
"aa_end": null,
"aa_length": 3188,
"cds_start": 8550,
"cds_end": null,
"cds_length": 9567,
"cdna_start": 9181,
"cdna_end": null,
"cdna_length": 11565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446183.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8550C>T",
"hgvs_p": "p.Asp2850Asp",
"transcript": "XM_047417566.1",
"protein_id": "XP_047273522.1",
"transcript_support_level": null,
"aa_start": 2850,
"aa_end": null,
"aa_length": 3188,
"cds_start": 8550,
"cds_end": null,
"cds_length": 9567,
"cdna_start": 8782,
"cdna_end": null,
"cdna_length": 11166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417566.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8550C>T",
"hgvs_p": "p.Asp2850Asp",
"transcript": "XM_047417567.1",
"protein_id": "XP_047273523.1",
"transcript_support_level": null,
"aa_start": 2850,
"aa_end": null,
"aa_length": 3188,
"cds_start": 8550,
"cds_end": null,
"cds_length": 9567,
"cdna_start": 8825,
"cdna_end": null,
"cdna_length": 11209,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417567.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8685C>T",
"hgvs_p": "p.Asp2895Asp",
"transcript": "XM_047417568.1",
"protein_id": "XP_047273524.1",
"transcript_support_level": null,
"aa_start": 2895,
"aa_end": null,
"aa_length": 3181,
"cds_start": 8685,
"cds_end": null,
"cds_length": 9546,
"cdna_start": 8864,
"cdna_end": null,
"cdna_length": 13857,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417568.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8499C>T",
"hgvs_p": "p.Asp2833Asp",
"transcript": "XM_047417569.1",
"protein_id": "XP_047273525.1",
"transcript_support_level": null,
"aa_start": 2833,
"aa_end": null,
"aa_length": 3171,
"cds_start": 8499,
"cds_end": null,
"cds_length": 9516,
"cdna_start": 8721,
"cdna_end": null,
"cdna_length": 11105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417569.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8496C>T",
"hgvs_p": "p.Asp2832Asp",
"transcript": "XM_047417570.1",
"protein_id": "XP_047273526.1",
"transcript_support_level": null,
"aa_start": 2832,
"aa_end": null,
"aa_length": 3170,
"cds_start": 8496,
"cds_end": null,
"cds_length": 9513,
"cdna_start": 8728,
"cdna_end": null,
"cdna_length": 11112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417570.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8631C>T",
"hgvs_p": "p.Asp2877Asp",
"transcript": "XM_047417571.1",
"protein_id": "XP_047273527.1",
"transcript_support_level": null,
"aa_start": 2877,
"aa_end": null,
"aa_length": 3163,
"cds_start": 8631,
"cds_end": null,
"cds_length": 9492,
"cdna_start": 8810,
"cdna_end": null,
"cdna_length": 13803,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417571.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8628C>T",
"hgvs_p": "p.Asp2876Asp",
"transcript": "XM_047417572.1",
"protein_id": "XP_047273528.1",
"transcript_support_level": null,
"aa_start": 2876,
"aa_end": null,
"aa_length": 3162,
"cds_start": 8628,
"cds_end": null,
"cds_length": 9489,
"cdna_start": 8807,
"cdna_end": null,
"cdna_length": 13800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417572.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8421C>T",
"hgvs_p": "p.Asp2807Asp",
"transcript": "XM_011514090.4",
"protein_id": "XP_011512392.1",
"transcript_support_level": null,
"aa_start": 2807,
"aa_end": null,
"aa_length": 3145,
"cds_start": 8421,
"cds_end": null,
"cds_length": 9438,
"cdna_start": 8837,
"cdna_end": null,
"cdna_length": 11221,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514090.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8577C>T",
"hgvs_p": "p.Asp2859Asp",
"transcript": "XM_047417573.1",
"protein_id": "XP_047273529.1",
"transcript_support_level": null,
"aa_start": 2859,
"aa_end": null,
"aa_length": 3145,
"cds_start": 8577,
"cds_end": null,
"cds_length": 9438,
"cdna_start": 8756,
"cdna_end": null,
"cdna_length": 13749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417573.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8571C>T",
"hgvs_p": "p.Asp2857Asp",
"transcript": "XM_047417575.1",
"protein_id": "XP_047273531.1",
"transcript_support_level": null,
"aa_start": 2857,
"aa_end": null,
"aa_length": 3143,
"cds_start": 8571,
"cds_end": null,
"cds_length": 9432,
"cdna_start": 8750,
"cdna_end": null,
"cdna_length": 13743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417575.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8067C>T",
"hgvs_p": "p.Asp2689Asp",
"transcript": "XM_047417576.1",
"protein_id": "XP_047273532.1",
"transcript_support_level": null,
"aa_start": 2689,
"aa_end": null,
"aa_length": 3027,
"cds_start": 8067,
"cds_end": null,
"cds_length": 9084,
"cdna_start": 8169,
"cdna_end": null,
"cdna_length": 10553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417576.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.8736C>T",
"hgvs_p": "p.Asp2912Asp",
"transcript": "XM_047417577.1",
"protein_id": "XP_047273533.1",
"transcript_support_level": null,
"aa_start": 2912,
"aa_end": null,
"aa_length": 3022,
"cds_start": 8736,
"cds_end": null,
"cds_length": 9069,
"cdna_start": 8915,
"cdna_end": null,
"cdna_length": 9566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417577.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.7746C>T",
"hgvs_p": "p.Asp2582Asp",
"transcript": "XM_047417578.1",
"protein_id": "XP_047273534.1",
"transcript_support_level": null,
"aa_start": 2582,
"aa_end": null,
"aa_length": 2920,
"cds_start": 7746,
"cds_end": null,
"cds_length": 8763,
"cdna_start": 8151,
"cdna_end": null,
"cdna_length": 10535,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417578.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "c.5382C>T",
"hgvs_p": "p.Asp1794Asp",
"transcript": "XM_017009766.2",
"protein_id": "XP_016865255.1",
"transcript_support_level": null,
"aa_start": 1794,
"aa_end": null,
"aa_length": 2132,
"cds_start": 5382,
"cds_end": null,
"cds_length": 6399,
"cdna_start": 5538,
"cdna_end": null,
"cdna_length": 7922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009766.2"
},
{
"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": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "n.324C>T",
"hgvs_p": null,
"transcript": "ENST00000504716.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 411,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000504716.1"
},
{
"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": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "n.439C>T",
"hgvs_p": null,
"transcript": "ENST00000505121.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 510,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000505121.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "n.1738C>T",
"hgvs_p": null,
"transcript": "ENST00000510830.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000510830.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "n.288C>T",
"hgvs_p": null,
"transcript": "ENST00000512288.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 588,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000512288.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"hgvs_c": "n.*16C>T",
"hgvs_p": null,
"transcript": "ENST00000508405.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 424,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000508405.1"
}
],
"gene_symbol": "CPLANE1",
"gene_hgnc_id": 25801,
"dbsnp": "rs376535591",
"frequency_reference_population": 0.000048979065,
"hom_count_reference_population": 0,
"allele_count_reference_population": 79,
"gnomad_exomes_af": 0.0000458663,
"gnomad_genomes_af": 0.0000788612,
"gnomad_exomes_ac": 67,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.003,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_001384732.1",
"gene_symbol": "CPLANE1",
"hgnc_id": 25801,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.8739C>T",
"hgvs_p": "p.Asp2913Asp"
}
],
"clinvar_disease": "Joubert syndrome 17,Orofaciodigital syndrome type 6,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not specified|not provided|Joubert syndrome 17;Orofaciodigital syndrome type 6",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}