← 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: 15-71826765-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=71826765&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 71826765,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006901.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7462A>G",
"hgvs_p": "p.Ile2488Val",
"transcript": "NM_006901.4",
"protein_id": "NP_008832.2",
"transcript_support_level": null,
"aa_start": 2488,
"aa_end": null,
"aa_length": 2548,
"cds_start": 7462,
"cds_end": null,
"cds_length": 7647,
"cdna_start": 8004,
"cdna_end": null,
"cdna_length": 12478,
"mane_select": "ENST00000356056.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006901.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7462A>G",
"hgvs_p": "p.Ile2488Val",
"transcript": "ENST00000356056.10",
"protein_id": "ENSP00000348349.5",
"transcript_support_level": 1,
"aa_start": 2488,
"aa_end": null,
"aa_length": 2548,
"cds_start": 7462,
"cds_end": null,
"cds_length": 7647,
"cdna_start": 8004,
"cdna_end": null,
"cdna_length": 12478,
"mane_select": "NM_006901.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356056.10"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.4009A>G",
"hgvs_p": "p.Ile1337Val",
"transcript": "ENST00000561618.5",
"protein_id": "ENSP00000457945.1",
"transcript_support_level": 1,
"aa_start": 1337,
"aa_end": null,
"aa_length": 1397,
"cds_start": 4009,
"cds_end": null,
"cds_length": 4194,
"cdna_start": 4011,
"cdna_end": null,
"cdna_length": 4784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561618.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.*267A>G",
"hgvs_p": null,
"transcript": "ENST00000564571.5",
"protein_id": "ENSP00000456192.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2396,
"cds_start": null,
"cds_end": null,
"cds_length": 7191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564571.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7594A>G",
"hgvs_p": "p.Ile2532Val",
"transcript": "ENST00000971716.1",
"protein_id": "ENSP00000641775.1",
"transcript_support_level": null,
"aa_start": 2532,
"aa_end": null,
"aa_length": 2592,
"cds_start": 7594,
"cds_end": null,
"cds_length": 7779,
"cdna_start": 7841,
"cdna_end": null,
"cdna_length": 8576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971716.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7501A>G",
"hgvs_p": "p.Ile2501Val",
"transcript": "ENST00000922047.1",
"protein_id": "ENSP00000592106.1",
"transcript_support_level": null,
"aa_start": 2501,
"aa_end": null,
"aa_length": 2561,
"cds_start": 7501,
"cds_end": null,
"cds_length": 7686,
"cdna_start": 7572,
"cdna_end": null,
"cdna_length": 12037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922047.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7405A>G",
"hgvs_p": "p.Ile2469Val",
"transcript": "ENST00000971717.1",
"protein_id": "ENSP00000641776.1",
"transcript_support_level": null,
"aa_start": 2469,
"aa_end": null,
"aa_length": 2529,
"cds_start": 7405,
"cds_end": null,
"cds_length": 7590,
"cdna_start": 7581,
"cdna_end": null,
"cdna_length": 8348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971717.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.1204A>G",
"hgvs_p": "p.Ile402Val",
"transcript": "ENST00000568042.5",
"protein_id": "ENSP00000457407.1",
"transcript_support_level": 5,
"aa_start": 402,
"aa_end": null,
"aa_length": 462,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 1922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568042.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7732A>G",
"hgvs_p": "p.Ile2578Val",
"transcript": "XM_011521613.4",
"protein_id": "XP_011519915.1",
"transcript_support_level": null,
"aa_start": 2578,
"aa_end": null,
"aa_length": 2638,
"cds_start": 7732,
"cds_end": null,
"cds_length": 7917,
"cdna_start": 8274,
"cdna_end": null,
"cdna_length": 12748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521613.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7732A>G",
"hgvs_p": "p.Ile2578Val",
"transcript": "XM_011521614.4",
"protein_id": "XP_011519916.1",
"transcript_support_level": null,
"aa_start": 2578,
"aa_end": null,
"aa_length": 2638,
"cds_start": 7732,
"cds_end": null,
"cds_length": 7917,
"cdna_start": 8319,
"cdna_end": null,
"cdna_length": 12793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521614.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7732A>G",
"hgvs_p": "p.Ile2578Val",
"transcript": "XM_011521615.4",
"protein_id": "XP_011519917.1",
"transcript_support_level": null,
"aa_start": 2578,
"aa_end": null,
"aa_length": 2638,
"cds_start": 7732,
"cds_end": null,
"cds_length": 7917,
"cdna_start": 8077,
"cdna_end": null,
"cdna_length": 12551,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521615.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7732A>G",
"hgvs_p": "p.Ile2578Val",
"transcript": "XM_011521616.4",
"protein_id": "XP_011519918.1",
"transcript_support_level": null,
"aa_start": 2578,
"aa_end": null,
"aa_length": 2638,
"cds_start": 7732,
"cds_end": null,
"cds_length": 7917,
"cdna_start": 7871,
"cdna_end": null,
"cdna_length": 12345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521616.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7729A>G",
"hgvs_p": "p.Ile2577Val",
"transcript": "XM_011521617.4",
"protein_id": "XP_011519919.1",
"transcript_support_level": null,
"aa_start": 2577,
"aa_end": null,
"aa_length": 2637,
"cds_start": 7729,
"cds_end": null,
"cds_length": 7914,
"cdna_start": 8271,
"cdna_end": null,
"cdna_length": 12745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521617.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7729A>G",
"hgvs_p": "p.Ile2577Val",
"transcript": "XM_047432547.1",
"protein_id": "XP_047288503.1",
"transcript_support_level": null,
"aa_start": 2577,
"aa_end": null,
"aa_length": 2637,
"cds_start": 7729,
"cds_end": null,
"cds_length": 7914,
"cdna_start": 7868,
"cdna_end": null,
"cdna_length": 12342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432547.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7729A>G",
"hgvs_p": "p.Ile2577Val",
"transcript": "XM_047432548.1",
"protein_id": "XP_047288504.1",
"transcript_support_level": null,
"aa_start": 2577,
"aa_end": null,
"aa_length": 2637,
"cds_start": 7729,
"cds_end": null,
"cds_length": 7914,
"cdna_start": 8316,
"cdna_end": null,
"cdna_length": 12790,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432548.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7678A>G",
"hgvs_p": "p.Ile2560Val",
"transcript": "XM_011521618.4",
"protein_id": "XP_011519920.1",
"transcript_support_level": null,
"aa_start": 2560,
"aa_end": null,
"aa_length": 2620,
"cds_start": 7678,
"cds_end": null,
"cds_length": 7863,
"cdna_start": 8220,
"cdna_end": null,
"cdna_length": 12694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521618.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7675A>G",
"hgvs_p": "p.Ile2559Val",
"transcript": "XM_006720539.4",
"protein_id": "XP_006720602.1",
"transcript_support_level": null,
"aa_start": 2559,
"aa_end": null,
"aa_length": 2619,
"cds_start": 7675,
"cds_end": null,
"cds_length": 7860,
"cdna_start": 8217,
"cdna_end": null,
"cdna_length": 12691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720539.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7675A>G",
"hgvs_p": "p.Ile2559Val",
"transcript": "XM_011521619.4",
"protein_id": "XP_011519921.1",
"transcript_support_level": null,
"aa_start": 2559,
"aa_end": null,
"aa_length": 2619,
"cds_start": 7675,
"cds_end": null,
"cds_length": 7860,
"cdna_start": 8217,
"cdna_end": null,
"cdna_length": 12691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521619.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7675A>G",
"hgvs_p": "p.Ile2559Val",
"transcript": "XM_047432549.1",
"protein_id": "XP_047288505.1",
"transcript_support_level": null,
"aa_start": 2559,
"aa_end": null,
"aa_length": 2619,
"cds_start": 7675,
"cds_end": null,
"cds_length": 7860,
"cdna_start": 7814,
"cdna_end": null,
"cdna_length": 12288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432549.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7675A>G",
"hgvs_p": "p.Ile2559Val",
"transcript": "XM_047432550.1",
"protein_id": "XP_047288506.1",
"transcript_support_level": null,
"aa_start": 2559,
"aa_end": null,
"aa_length": 2619,
"cds_start": 7675,
"cds_end": null,
"cds_length": 7860,
"cdna_start": 8262,
"cdna_end": null,
"cdna_length": 12736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432550.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7675A>G",
"hgvs_p": "p.Ile2559Val",
"transcript": "XM_047432551.1",
"protein_id": "XP_047288507.1",
"transcript_support_level": null,
"aa_start": 2559,
"aa_end": null,
"aa_length": 2619,
"cds_start": 7675,
"cds_end": null,
"cds_length": 7860,
"cdna_start": 7814,
"cdna_end": null,
"cdna_length": 12288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432551.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7675A>G",
"hgvs_p": "p.Ile2559Val",
"transcript": "XM_047432552.1",
"protein_id": "XP_047288508.1",
"transcript_support_level": null,
"aa_start": 2559,
"aa_end": null,
"aa_length": 2619,
"cds_start": 7675,
"cds_end": null,
"cds_length": 7860,
"cdna_start": 8262,
"cdna_end": null,
"cdna_length": 12736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432552.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7675A>G",
"hgvs_p": "p.Ile2559Val",
"transcript": "XM_047432553.1",
"protein_id": "XP_047288509.1",
"transcript_support_level": null,
"aa_start": 2559,
"aa_end": null,
"aa_length": 2619,
"cds_start": 7675,
"cds_end": null,
"cds_length": 7860,
"cdna_start": 8036,
"cdna_end": null,
"cdna_length": 12510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432553.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7672A>G",
"hgvs_p": "p.Ile2558Val",
"transcript": "XM_011521620.4",
"protein_id": "XP_011519922.1",
"transcript_support_level": null,
"aa_start": 2558,
"aa_end": null,
"aa_length": 2618,
"cds_start": 7672,
"cds_end": null,
"cds_length": 7857,
"cdna_start": 8214,
"cdna_end": null,
"cdna_length": 12688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521620.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7672A>G",
"hgvs_p": "p.Ile2558Val",
"transcript": "XM_047432554.1",
"protein_id": "XP_047288510.1",
"transcript_support_level": null,
"aa_start": 2558,
"aa_end": null,
"aa_length": 2618,
"cds_start": 7672,
"cds_end": null,
"cds_length": 7857,
"cdna_start": 7811,
"cdna_end": null,
"cdna_length": 12285,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432554.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7672A>G",
"hgvs_p": "p.Ile2558Val",
"transcript": "XM_047432555.1",
"protein_id": "XP_047288511.1",
"transcript_support_level": null,
"aa_start": 2558,
"aa_end": null,
"aa_length": 2618,
"cds_start": 7672,
"cds_end": null,
"cds_length": 7857,
"cdna_start": 8259,
"cdna_end": null,
"cdna_length": 12733,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432555.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7672A>G",
"hgvs_p": "p.Ile2558Val",
"transcript": "XM_047432556.1",
"protein_id": "XP_047288512.1",
"transcript_support_level": null,
"aa_start": 2558,
"aa_end": null,
"aa_length": 2618,
"cds_start": 7672,
"cds_end": null,
"cds_length": 7857,
"cdna_start": 8017,
"cdna_end": null,
"cdna_length": 12491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432556.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7621A>G",
"hgvs_p": "p.Ile2541Val",
"transcript": "XM_047432557.1",
"protein_id": "XP_047288513.1",
"transcript_support_level": null,
"aa_start": 2541,
"aa_end": null,
"aa_length": 2601,
"cds_start": 7621,
"cds_end": null,
"cds_length": 7806,
"cdna_start": 8163,
"cdna_end": null,
"cdna_length": 12637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432557.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7618A>G",
"hgvs_p": "p.Ile2540Val",
"transcript": "XM_047432558.1",
"protein_id": "XP_047288514.1",
"transcript_support_level": null,
"aa_start": 2540,
"aa_end": null,
"aa_length": 2600,
"cds_start": 7618,
"cds_end": null,
"cds_length": 7803,
"cdna_start": 8160,
"cdna_end": null,
"cdna_length": 12634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432558.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7618A>G",
"hgvs_p": "p.Ile2540Val",
"transcript": "XM_047432559.1",
"protein_id": "XP_047288515.1",
"transcript_support_level": null,
"aa_start": 2540,
"aa_end": null,
"aa_length": 2600,
"cds_start": 7618,
"cds_end": null,
"cds_length": 7803,
"cdna_start": 7757,
"cdna_end": null,
"cdna_length": 12231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432559.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7618A>G",
"hgvs_p": "p.Ile2540Val",
"transcript": "XM_047432560.1",
"protein_id": "XP_047288516.1",
"transcript_support_level": null,
"aa_start": 2540,
"aa_end": null,
"aa_length": 2600,
"cds_start": 7618,
"cds_end": null,
"cds_length": 7803,
"cdna_start": 8205,
"cdna_end": null,
"cdna_length": 12679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432560.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7612A>G",
"hgvs_p": "p.Ile2538Val",
"transcript": "XM_011521621.4",
"protein_id": "XP_011519923.1",
"transcript_support_level": null,
"aa_start": 2538,
"aa_end": null,
"aa_length": 2598,
"cds_start": 7612,
"cds_end": null,
"cds_length": 7797,
"cdna_start": 8154,
"cdna_end": null,
"cdna_length": 12628,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521621.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7612A>G",
"hgvs_p": "p.Ile2538Val",
"transcript": "XM_047432561.1",
"protein_id": "XP_047288517.1",
"transcript_support_level": null,
"aa_start": 2538,
"aa_end": null,
"aa_length": 2598,
"cds_start": 7612,
"cds_end": null,
"cds_length": 7797,
"cdna_start": 7751,
"cdna_end": null,
"cdna_length": 12225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432561.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7612A>G",
"hgvs_p": "p.Ile2538Val",
"transcript": "XM_047432562.1",
"protein_id": "XP_047288518.1",
"transcript_support_level": null,
"aa_start": 2538,
"aa_end": null,
"aa_length": 2598,
"cds_start": 7612,
"cds_end": null,
"cds_length": 7797,
"cdna_start": 8199,
"cdna_end": null,
"cdna_length": 12673,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432562.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7609A>G",
"hgvs_p": "p.Ile2537Val",
"transcript": "XM_047432564.1",
"protein_id": "XP_047288520.1",
"transcript_support_level": null,
"aa_start": 2537,
"aa_end": null,
"aa_length": 2597,
"cds_start": 7609,
"cds_end": null,
"cds_length": 7794,
"cdna_start": 8151,
"cdna_end": null,
"cdna_length": 12625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432564.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7609A>G",
"hgvs_p": "p.Ile2537Val",
"transcript": "XM_047432565.1",
"protein_id": "XP_047288521.1",
"transcript_support_level": null,
"aa_start": 2537,
"aa_end": null,
"aa_length": 2597,
"cds_start": 7609,
"cds_end": null,
"cds_length": 7794,
"cdna_start": 7748,
"cdna_end": null,
"cdna_length": 12222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432565.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7609A>G",
"hgvs_p": "p.Ile2537Val",
"transcript": "XM_047432566.1",
"protein_id": "XP_047288522.1",
"transcript_support_level": null,
"aa_start": 2537,
"aa_end": null,
"aa_length": 2597,
"cds_start": 7609,
"cds_end": null,
"cds_length": 7794,
"cdna_start": 8196,
"cdna_end": null,
"cdna_length": 12670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432566.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7555A>G",
"hgvs_p": "p.Ile2519Val",
"transcript": "XM_047432567.1",
"protein_id": "XP_047288523.1",
"transcript_support_level": null,
"aa_start": 2519,
"aa_end": null,
"aa_length": 2579,
"cds_start": 7555,
"cds_end": null,
"cds_length": 7740,
"cdna_start": 8097,
"cdna_end": null,
"cdna_length": 12571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432567.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7555A>G",
"hgvs_p": "p.Ile2519Val",
"transcript": "XM_047432568.1",
"protein_id": "XP_047288524.1",
"transcript_support_level": null,
"aa_start": 2519,
"aa_end": null,
"aa_length": 2579,
"cds_start": 7555,
"cds_end": null,
"cds_length": 7740,
"cdna_start": 8097,
"cdna_end": null,
"cdna_length": 12571,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432568.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7555A>G",
"hgvs_p": "p.Ile2519Val",
"transcript": "XM_047432569.1",
"protein_id": "XP_047288525.1",
"transcript_support_level": null,
"aa_start": 2519,
"aa_end": null,
"aa_length": 2579,
"cds_start": 7555,
"cds_end": null,
"cds_length": 7740,
"cdna_start": 7694,
"cdna_end": null,
"cdna_length": 12168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432569.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7555A>G",
"hgvs_p": "p.Ile2519Val",
"transcript": "XM_047432570.1",
"protein_id": "XP_047288526.1",
"transcript_support_level": null,
"aa_start": 2519,
"aa_end": null,
"aa_length": 2579,
"cds_start": 7555,
"cds_end": null,
"cds_length": 7740,
"cdna_start": 8142,
"cdna_end": null,
"cdna_length": 12616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432570.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7555A>G",
"hgvs_p": "p.Ile2519Val",
"transcript": "XM_047432571.1",
"protein_id": "XP_047288527.1",
"transcript_support_level": null,
"aa_start": 2519,
"aa_end": null,
"aa_length": 2579,
"cds_start": 7555,
"cds_end": null,
"cds_length": 7740,
"cdna_start": 7900,
"cdna_end": null,
"cdna_length": 12374,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432571.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7552A>G",
"hgvs_p": "p.Ile2518Val",
"transcript": "XM_047432572.1",
"protein_id": "XP_047288528.1",
"transcript_support_level": null,
"aa_start": 2518,
"aa_end": null,
"aa_length": 2578,
"cds_start": 7552,
"cds_end": null,
"cds_length": 7737,
"cdna_start": 8094,
"cdna_end": null,
"cdna_length": 12568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432572.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7552A>G",
"hgvs_p": "p.Ile2518Val",
"transcript": "XM_047432573.1",
"protein_id": "XP_047288529.1",
"transcript_support_level": null,
"aa_start": 2518,
"aa_end": null,
"aa_length": 2578,
"cds_start": 7552,
"cds_end": null,
"cds_length": 7737,
"cdna_start": 7691,
"cdna_end": null,
"cdna_length": 12165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432573.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7516A>G",
"hgvs_p": "p.Ile2506Val",
"transcript": "XM_011521622.4",
"protein_id": "XP_011519924.1",
"transcript_support_level": null,
"aa_start": 2506,
"aa_end": null,
"aa_length": 2566,
"cds_start": 7516,
"cds_end": null,
"cds_length": 7701,
"cdna_start": 8058,
"cdna_end": null,
"cdna_length": 12532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521622.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7516A>G",
"hgvs_p": "p.Ile2506Val",
"transcript": "XM_017022229.2",
"protein_id": "XP_016877718.1",
"transcript_support_level": null,
"aa_start": 2506,
"aa_end": null,
"aa_length": 2566,
"cds_start": 7516,
"cds_end": null,
"cds_length": 7701,
"cdna_start": 8103,
"cdna_end": null,
"cdna_length": 12577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022229.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7516A>G",
"hgvs_p": "p.Ile2506Val",
"transcript": "XM_047432575.1",
"protein_id": "XP_047288531.1",
"transcript_support_level": null,
"aa_start": 2506,
"aa_end": null,
"aa_length": 2566,
"cds_start": 7516,
"cds_end": null,
"cds_length": 7701,
"cdna_start": 7655,
"cdna_end": null,
"cdna_length": 12129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432575.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7516A>G",
"hgvs_p": "p.Ile2506Val",
"transcript": "XM_047432576.1",
"protein_id": "XP_047288532.1",
"transcript_support_level": null,
"aa_start": 2506,
"aa_end": null,
"aa_length": 2566,
"cds_start": 7516,
"cds_end": null,
"cds_length": 7701,
"cdna_start": 7883,
"cdna_end": null,
"cdna_length": 12357,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432576.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7498A>G",
"hgvs_p": "p.Ile2500Val",
"transcript": "XM_047432577.1",
"protein_id": "XP_047288533.1",
"transcript_support_level": null,
"aa_start": 2500,
"aa_end": null,
"aa_length": 2560,
"cds_start": 7498,
"cds_end": null,
"cds_length": 7683,
"cdna_start": 8040,
"cdna_end": null,
"cdna_length": 12514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432577.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7462A>G",
"hgvs_p": "p.Ile2488Val",
"transcript": "XM_047432578.1",
"protein_id": "XP_047288534.1",
"transcript_support_level": null,
"aa_start": 2488,
"aa_end": null,
"aa_length": 2548,
"cds_start": 7462,
"cds_end": null,
"cds_length": 7647,
"cdna_start": 7807,
"cdna_end": null,
"cdna_length": 12281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432578.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7459A>G",
"hgvs_p": "p.Ile2487Val",
"transcript": "XM_017022230.3",
"protein_id": "XP_016877719.1",
"transcript_support_level": null,
"aa_start": 2487,
"aa_end": null,
"aa_length": 2547,
"cds_start": 7459,
"cds_end": null,
"cds_length": 7644,
"cdna_start": 8001,
"cdna_end": null,
"cdna_length": 12475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022230.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7459A>G",
"hgvs_p": "p.Ile2487Val",
"transcript": "XM_047432579.1",
"protein_id": "XP_047288535.1",
"transcript_support_level": null,
"aa_start": 2487,
"aa_end": null,
"aa_length": 2547,
"cds_start": 7459,
"cds_end": null,
"cds_length": 7644,
"cdna_start": 8046,
"cdna_end": null,
"cdna_length": 12520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432579.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7459A>G",
"hgvs_p": "p.Ile2487Val",
"transcript": "XM_047432580.1",
"protein_id": "XP_047288536.1",
"transcript_support_level": null,
"aa_start": 2487,
"aa_end": null,
"aa_length": 2547,
"cds_start": 7459,
"cds_end": null,
"cds_length": 7644,
"cdna_start": 7598,
"cdna_end": null,
"cdna_length": 12072,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432580.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7405A>G",
"hgvs_p": "p.Ile2469Val",
"transcript": "XM_047432581.1",
"protein_id": "XP_047288537.1",
"transcript_support_level": null,
"aa_start": 2469,
"aa_end": null,
"aa_length": 2529,
"cds_start": 7405,
"cds_end": null,
"cds_length": 7590,
"cdna_start": 7947,
"cdna_end": null,
"cdna_length": 12421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432581.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7396A>G",
"hgvs_p": "p.Ile2466Val",
"transcript": "XM_047432583.1",
"protein_id": "XP_047288539.1",
"transcript_support_level": null,
"aa_start": 2466,
"aa_end": null,
"aa_length": 2526,
"cds_start": 7396,
"cds_end": null,
"cds_length": 7581,
"cdna_start": 7938,
"cdna_end": null,
"cdna_length": 12412,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432583.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7396A>G",
"hgvs_p": "p.Ile2466Val",
"transcript": "XM_047432584.1",
"protein_id": "XP_047288540.1",
"transcript_support_level": null,
"aa_start": 2466,
"aa_end": null,
"aa_length": 2526,
"cds_start": 7396,
"cds_end": null,
"cds_length": 7581,
"cdna_start": 7535,
"cdna_end": null,
"cdna_length": 12009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432584.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"hgvs_c": "c.7339A>G",
"hgvs_p": "p.Ile2447Val",
"transcript": "XM_047432585.1",
"protein_id": "XP_047288541.1",
"transcript_support_level": null,
"aa_start": 2447,
"aa_end": null,
"aa_length": 2507,
"cds_start": 7339,
"cds_end": null,
"cds_length": 7524,
"cdna_start": 7684,
"cdna_end": null,
"cdna_length": 12158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432585.1"
}
],
"gene_symbol": "MYO9A",
"gene_hgnc_id": 7608,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07438266277313232,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.339,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1131,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.375,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006901.4",
"gene_symbol": "MYO9A",
"hgnc_id": 7608,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "c.7462A>G",
"hgvs_p": "p.Ile2488Val"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}