← 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: 13-20615802-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=20615802&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 20615802,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_175605.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "NM_006531.5",
"protein_id": "NP_006522.2",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 824,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000351808.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006531.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000351808.10",
"protein_id": "ENSP00000261632.5",
"transcript_support_level": 1,
"aa_start": 374,
"aa_end": null,
"aa_length": 824,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006531.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351808.10"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1149G>A",
"hgvs_p": "p.Met383Ile",
"transcript": "ENST00000319980.10",
"protein_id": "ENSP00000323580.6",
"transcript_support_level": 1,
"aa_start": 383,
"aa_end": null,
"aa_length": 833,
"cds_start": 1149,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319980.10"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1149G>A",
"hgvs_p": "p.Met383Ile",
"transcript": "NM_001318493.2",
"protein_id": "NP_001305422.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 833,
"cds_start": 1149,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318493.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1149G>A",
"hgvs_p": "p.Met383Ile",
"transcript": "NM_001353565.2",
"protein_id": "NP_001340494.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 833,
"cds_start": 1149,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353565.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1149G>A",
"hgvs_p": "p.Met383Ile",
"transcript": "NM_001353566.2",
"protein_id": "NP_001340495.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 833,
"cds_start": 1149,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353566.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1149G>A",
"hgvs_p": "p.Met383Ile",
"transcript": "NM_001353567.2",
"protein_id": "NP_001340496.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 833,
"cds_start": 1149,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353567.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1149G>A",
"hgvs_p": "p.Met383Ile",
"transcript": "NM_175605.5",
"protein_id": "NP_783195.2",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 833,
"cds_start": 1149,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175605.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "NM_001353568.2",
"protein_id": "NP_001340497.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 824,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353568.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000894242.1",
"protein_id": "ENSP00000564301.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 824,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894242.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000894243.1",
"protein_id": "ENSP00000564302.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 824,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894243.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000894245.1",
"protein_id": "ENSP00000564304.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 824,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894245.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000894248.1",
"protein_id": "ENSP00000564307.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 824,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894248.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000894252.1",
"protein_id": "ENSP00000564311.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 824,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894252.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000894254.1",
"protein_id": "ENSP00000564313.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 824,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894254.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000894261.1",
"protein_id": "ENSP00000564320.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 824,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894261.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000927832.1",
"protein_id": "ENSP00000597891.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 824,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927832.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000950099.1",
"protein_id": "ENSP00000620158.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 824,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950099.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000950105.1",
"protein_id": "ENSP00000620164.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 824,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950105.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000950106.1",
"protein_id": "ENSP00000620165.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 824,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950106.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000950115.1",
"protein_id": "ENSP00000620174.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 824,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950115.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000950118.1",
"protein_id": "ENSP00000620177.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 824,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950118.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1116G>A",
"hgvs_p": "p.Met372Ile",
"transcript": "ENST00000950110.1",
"protein_id": "ENSP00000620169.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 822,
"cds_start": 1116,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950110.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1065G>A",
"hgvs_p": "p.Met355Ile",
"transcript": "NM_001318491.2",
"protein_id": "NP_001305420.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 805,
"cds_start": 1065,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318491.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1065G>A",
"hgvs_p": "p.Met355Ile",
"transcript": "ENST00000894240.1",
"protein_id": "ENSP00000564299.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 805,
"cds_start": 1065,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894240.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1065G>A",
"hgvs_p": "p.Met355Ile",
"transcript": "ENST00000894260.1",
"protein_id": "ENSP00000564319.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 805,
"cds_start": 1065,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894260.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1065G>A",
"hgvs_p": "p.Met355Ile",
"transcript": "ENST00000950100.1",
"protein_id": "ENSP00000620159.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 805,
"cds_start": 1065,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950100.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1065G>A",
"hgvs_p": "p.Met355Ile",
"transcript": "ENST00000950117.1",
"protein_id": "ENSP00000620176.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 805,
"cds_start": 1065,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950117.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1065G>A",
"hgvs_p": "p.Met355Ile",
"transcript": "ENST00000950112.1",
"protein_id": "ENSP00000620171.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 800,
"cds_start": 1065,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950112.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1047G>A",
"hgvs_p": "p.Met349Ile",
"transcript": "NM_001353569.2",
"protein_id": "NP_001340498.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 799,
"cds_start": 1047,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353569.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1047G>A",
"hgvs_p": "p.Met349Ile",
"transcript": "NM_001353570.2",
"protein_id": "NP_001340499.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 799,
"cds_start": 1047,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353570.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000894246.1",
"protein_id": "ENSP00000564305.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 795,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894246.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1020G>A",
"hgvs_p": "p.Met340Ile",
"transcript": "NM_001353571.2",
"protein_id": "NP_001340500.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 790,
"cds_start": 1020,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353571.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "NM_001353572.2",
"protein_id": "NP_001340501.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 787,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353572.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000894239.1",
"protein_id": "ENSP00000564298.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 787,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894239.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000894244.1",
"protein_id": "ENSP00000564303.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 787,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894244.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000894250.1",
"protein_id": "ENSP00000564309.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 787,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894250.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000950101.1",
"protein_id": "ENSP00000620160.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 787,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950101.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000950103.1",
"protein_id": "ENSP00000620162.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 787,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950103.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1011G>A",
"hgvs_p": "p.Met337Ile",
"transcript": "ENST00000950107.1",
"protein_id": "ENSP00000620166.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 787,
"cds_start": 1011,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950107.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000950108.1",
"protein_id": "ENSP00000620167.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 787,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950108.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000950114.1",
"protein_id": "ENSP00000620173.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 787,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950114.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000950116.1",
"protein_id": "ENSP00000620175.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 787,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950116.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.963G>A",
"hgvs_p": "p.Met321Ile",
"transcript": "NM_001353574.2",
"protein_id": "NP_001340503.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 771,
"cds_start": 963,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353574.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1065G>A",
"hgvs_p": "p.Met355Ile",
"transcript": "ENST00000894241.1",
"protein_id": "ENSP00000564300.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 768,
"cds_start": 1065,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894241.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1065G>A",
"hgvs_p": "p.Met355Ile",
"transcript": "NM_001353575.2",
"protein_id": "NP_001340504.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 767,
"cds_start": 1065,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353575.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1047G>A",
"hgvs_p": "p.Met349Ile",
"transcript": "NM_001353576.2",
"protein_id": "NP_001340505.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 762,
"cds_start": 1047,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353576.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1047G>A",
"hgvs_p": "p.Met349Ile",
"transcript": "NM_001353577.2",
"protein_id": "NP_001340506.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 762,
"cds_start": 1047,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353577.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1020G>A",
"hgvs_p": "p.Met340Ile",
"transcript": "NM_001353578.2",
"protein_id": "NP_001340507.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 753,
"cds_start": 1020,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353578.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1065G>A",
"hgvs_p": "p.Met355Ile",
"transcript": "ENST00000950111.1",
"protein_id": "ENSP00000620170.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 747,
"cds_start": 1065,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950111.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.861G>A",
"hgvs_p": "p.Met287Ile",
"transcript": "ENST00000894238.1",
"protein_id": "ENSP00000564297.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 737,
"cds_start": 861,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894238.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.861G>A",
"hgvs_p": "p.Met287Ile",
"transcript": "ENST00000894249.1",
"protein_id": "ENSP00000564308.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 737,
"cds_start": 861,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894249.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000894255.1",
"protein_id": "ENSP00000564314.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 709,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894255.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "ENST00000894247.1",
"protein_id": "ENSP00000564306.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 675,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894247.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.489G>A",
"hgvs_p": "p.Met163Ile",
"transcript": "NM_001353579.2",
"protein_id": "NP_001340508.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 613,
"cds_start": 489,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353579.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.531G>A",
"hgvs_p": "p.Met177Ile",
"transcript": "ENST00000537103.2",
"protein_id": "ENSP00000437719.2",
"transcript_support_level": 5,
"aa_start": 177,
"aa_end": null,
"aa_length": 367,
"cds_start": 531,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537103.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "XM_006719870.4",
"protein_id": "XP_006719933.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 824,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719870.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "XM_017020757.2",
"protein_id": "XP_016876246.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 824,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020757.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "XM_047430655.1",
"protein_id": "XP_047286611.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 824,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430655.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1092G>A",
"hgvs_p": "p.Met364Ile",
"transcript": "XM_047430656.1",
"protein_id": "XP_047286612.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 814,
"cds_start": 1092,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430656.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1092G>A",
"hgvs_p": "p.Met364Ile",
"transcript": "XM_047430657.1",
"protein_id": "XP_047286613.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 814,
"cds_start": 1092,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430657.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1065G>A",
"hgvs_p": "p.Met355Ile",
"transcript": "XM_047430658.1",
"protein_id": "XP_047286614.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 805,
"cds_start": 1065,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430658.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1047G>A",
"hgvs_p": "p.Met349Ile",
"transcript": "XM_047430661.1",
"protein_id": "XP_047286617.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 799,
"cds_start": 1047,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430661.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1149G>A",
"hgvs_p": "p.Met383Ile",
"transcript": "XM_017020762.2",
"protein_id": "XP_016876251.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 796,
"cds_start": 1149,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020762.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1149G>A",
"hgvs_p": "p.Met383Ile",
"transcript": "XM_047430662.1",
"protein_id": "XP_047286618.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 796,
"cds_start": 1149,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430662.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1149G>A",
"hgvs_p": "p.Met383Ile",
"transcript": "XM_017020763.2",
"protein_id": "XP_016876252.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 795,
"cds_start": 1149,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020763.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1149G>A",
"hgvs_p": "p.Met383Ile",
"transcript": "XM_047430664.1",
"protein_id": "XP_047286620.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 795,
"cds_start": 1149,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430664.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1020G>A",
"hgvs_p": "p.Met340Ile",
"transcript": "XM_047430665.1",
"protein_id": "XP_047286621.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 790,
"cds_start": 1020,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430665.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1122G>A",
"hgvs_p": "p.Met374Ile",
"transcript": "XM_047430666.1",
"protein_id": "XP_047286622.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 787,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430666.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Met330Ile",
"transcript": "XM_024449413.2",
"protein_id": "XP_024305181.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 780,
"cds_start": 990,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449413.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.990G>A",
"hgvs_p": "p.Met330Ile",
"transcript": "XM_047430668.1",
"protein_id": "XP_047286624.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 780,
"cds_start": 990,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430668.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1092G>A",
"hgvs_p": "p.Met364Ile",
"transcript": "XM_047430669.1",
"protein_id": "XP_047286625.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 776,
"cds_start": 1092,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430669.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1065G>A",
"hgvs_p": "p.Met355Ile",
"transcript": "XM_047430672.1",
"protein_id": "XP_047286628.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 768,
"cds_start": 1065,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430672.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1149G>A",
"hgvs_p": "p.Met383Ile",
"transcript": "XM_047430676.1",
"protein_id": "XP_047286632.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 710,
"cds_start": 1149,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430676.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1149G>A",
"hgvs_p": "p.Met383Ile",
"transcript": "XM_017020775.2",
"protein_id": "XP_016876264.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 487,
"cds_start": 1149,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020775.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1113-9948G>A",
"hgvs_p": null,
"transcript": "ENST00000894253.1",
"protein_id": "ENSP00000564312.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 795,
"cds_start": null,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894253.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1113-9948G>A",
"hgvs_p": null,
"transcript": "ENST00000950109.1",
"protein_id": "ENSP00000620168.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 795,
"cds_start": null,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950109.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1056-9948G>A",
"hgvs_p": null,
"transcript": "NM_001353573.2",
"protein_id": "NP_001340502.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": null,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353573.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1056-9948G>A",
"hgvs_p": null,
"transcript": "ENST00000950104.1",
"protein_id": "ENSP00000620163.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 776,
"cds_start": null,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950104.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1113-9948G>A",
"hgvs_p": null,
"transcript": "ENST00000894258.1",
"protein_id": "ENSP00000564317.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 766,
"cds_start": null,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894258.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1113-9948G>A",
"hgvs_p": null,
"transcript": "ENST00000950113.1",
"protein_id": "ENSP00000620172.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 766,
"cds_start": null,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950113.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1113-9948G>A",
"hgvs_p": null,
"transcript": "ENST00000894259.1",
"protein_id": "ENSP00000564318.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": null,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894259.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1056-9948G>A",
"hgvs_p": null,
"transcript": "ENST00000950102.1",
"protein_id": "ENSP00000620161.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 747,
"cds_start": null,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950102.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.154-22530G>A",
"hgvs_p": null,
"transcript": "ENST00000894256.1",
"protein_id": "ENSP00000564315.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": null,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894256.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.153+32783G>A",
"hgvs_p": null,
"transcript": "ENST00000894257.1",
"protein_id": "ENSP00000564316.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 150,
"cds_start": null,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894257.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.153+32783G>A",
"hgvs_p": null,
"transcript": "ENST00000894251.1",
"protein_id": "ENSP00000564310.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": null,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894251.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1140-9948G>A",
"hgvs_p": null,
"transcript": "XM_047430659.1",
"protein_id": "XP_047286615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 804,
"cds_start": null,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430659.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1140-9948G>A",
"hgvs_p": null,
"transcript": "XM_047430660.1",
"protein_id": "XP_047286616.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 804,
"cds_start": null,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430660.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1113-9948G>A",
"hgvs_p": null,
"transcript": "XM_047430663.1",
"protein_id": "XP_047286619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 795,
"cds_start": null,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430663.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1083-9948G>A",
"hgvs_p": null,
"transcript": "XM_047430667.1",
"protein_id": "XP_047286623.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": null,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430667.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1038-9948G>A",
"hgvs_p": null,
"transcript": "XM_047430670.1",
"protein_id": "XP_047286626.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 770,
"cds_start": null,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430670.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1038-9948G>A",
"hgvs_p": null,
"transcript": "XM_047430671.1",
"protein_id": "XP_047286627.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 770,
"cds_start": null,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430671.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1011-9948G>A",
"hgvs_p": null,
"transcript": "XM_047430673.1",
"protein_id": "XP_047286629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 761,
"cds_start": null,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430673.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1113-9948G>A",
"hgvs_p": null,
"transcript": "XM_047430674.1",
"protein_id": "XP_047286630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": null,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430674.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.954-9948G>A",
"hgvs_p": null,
"transcript": "XM_047430675.1",
"protein_id": "XP_047286631.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": null,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430675.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "n.139G>A",
"hgvs_p": null,
"transcript": "ENST00000461115.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000461115.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "n.12G>A",
"hgvs_p": null,
"transcript": "ENST00000482172.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000482172.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "n.1556G>A",
"hgvs_p": null,
"transcript": "NR_134653.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_134653.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "n.1457G>A",
"hgvs_p": null,
"transcript": "NR_148462.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148462.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "n.1391G>A",
"hgvs_p": null,
"transcript": "NR_148463.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148463.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "n.1228G>A",
"hgvs_p": null,
"transcript": "NR_148464.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148464.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "n.1171G>A",
"hgvs_p": null,
"transcript": "NR_148465.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148465.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "n.1556G>A",
"hgvs_p": null,
"transcript": "XR_007063700.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007063700.1"
}
],
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"dbsnp": "rs2442455",
"frequency_reference_population": 0.137351,
"hom_count_reference_population": 16673,
"allele_count_reference_population": 218020,
"gnomad_exomes_af": 0.134494,
"gnomad_genomes_af": 0.164329,
"gnomad_exomes_ac": 193041,
"gnomad_genomes_ac": 24979,
"gnomad_exomes_homalt": 14279,
"gnomad_genomes_homalt": 2394,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0013180673122406006,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.27000001072883606,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.011,
"revel_prediction": "Benign",
"alphamissense_score": 0.1612,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.193,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.27,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_175605.5",
"gene_symbol": "IFT88",
"hgnc_id": 20606,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1149G>A",
"hgvs_p": "p.Met383Ile"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}