← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 17-36496302-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=36496302&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 36496302,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001163735.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2862A>G",
"hgvs_p": "p.Glu954Glu",
"transcript": "NM_001163735.2",
"protein_id": "NP_001157207.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 970,
"cds_start": 2862,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000614623.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163735.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2862A>G",
"hgvs_p": "p.Glu954Glu",
"transcript": "ENST00000614623.5",
"protein_id": "ENSP00000479518.1",
"transcript_support_level": 2,
"aa_start": 954,
"aa_end": null,
"aa_length": 970,
"cds_start": 2862,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001163735.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614623.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2262A>G",
"hgvs_p": "p.Glu754Glu",
"transcript": "ENST00000610930.4",
"protein_id": "ENSP00000478437.1",
"transcript_support_level": 5,
"aa_start": 754,
"aa_end": null,
"aa_length": 770,
"cds_start": 2262,
"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": "ENST00000610930.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "n.3679A>G",
"hgvs_p": null,
"transcript": "ENST00000611622.4",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000611622.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNHIT3",
"gene_hgnc_id": 12309,
"hgvs_c": "n.277-1304T>C",
"hgvs_p": null,
"transcript": "ENST00000612728.4",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000612728.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2979A>G",
"hgvs_p": "p.Glu993Glu",
"transcript": "ENST00000929267.1",
"protein_id": "ENSP00000599326.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2979,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929267.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2961A>G",
"hgvs_p": "p.Glu987Glu",
"transcript": "ENST00000929272.1",
"protein_id": "ENSP00000599331.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1003,
"cds_start": 2961,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929272.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2955A>G",
"hgvs_p": "p.Glu985Glu",
"transcript": "ENST00000929271.1",
"protein_id": "ENSP00000599330.1",
"transcript_support_level": null,
"aa_start": 985,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2955,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929271.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2922A>G",
"hgvs_p": "p.Glu974Glu",
"transcript": "ENST00000929269.1",
"protein_id": "ENSP00000599328.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 990,
"cds_start": 2922,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929269.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2904A>G",
"hgvs_p": "p.Glu968Glu",
"transcript": "ENST00000929273.1",
"protein_id": "ENSP00000599332.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 984,
"cds_start": 2904,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929273.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2880A>G",
"hgvs_p": "p.Glu960Glu",
"transcript": "ENST00000929268.1",
"protein_id": "ENSP00000599327.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 976,
"cds_start": 2880,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929268.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2880A>G",
"hgvs_p": "p.Glu960Glu",
"transcript": "ENST00000929274.1",
"protein_id": "ENSP00000599333.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 976,
"cds_start": 2880,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929274.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2868A>G",
"hgvs_p": "p.Glu956Glu",
"transcript": "ENST00000884132.1",
"protein_id": "ENSP00000554191.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 972,
"cds_start": 2868,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884132.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2868A>G",
"hgvs_p": "p.Glu956Glu",
"transcript": "ENST00000884135.1",
"protein_id": "ENSP00000554194.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 972,
"cds_start": 2868,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884135.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2862A>G",
"hgvs_p": "p.Glu954Glu",
"transcript": "ENST00000969859.1",
"protein_id": "ENSP00000639918.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 970,
"cds_start": 2862,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969859.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2859A>G",
"hgvs_p": "p.Glu953Glu",
"transcript": "ENST00000929270.1",
"protein_id": "ENSP00000599329.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 969,
"cds_start": 2859,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929270.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2574A>G",
"hgvs_p": "p.Glu858Glu",
"transcript": "ENST00000884136.1",
"protein_id": "ENSP00000554195.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 874,
"cds_start": 2574,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884136.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2568A>G",
"hgvs_p": "p.Glu856Glu",
"transcript": "ENST00000884134.1",
"protein_id": "ENSP00000554193.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 872,
"cds_start": 2568,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884134.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2448A>G",
"hgvs_p": "p.Glu816Glu",
"transcript": "ENST00000969861.1",
"protein_id": "ENSP00000639920.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 832,
"cds_start": 2448,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969861.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2262A>G",
"hgvs_p": "p.Glu754Glu",
"transcript": "NM_025109.6",
"protein_id": "NP_079385.2",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 770,
"cds_start": 2262,
"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": "NM_025109.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2154A>G",
"hgvs_p": "p.Glu718Glu",
"transcript": "ENST00000884133.1",
"protein_id": "ENSP00000554192.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 734,
"cds_start": 2154,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884133.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2094A>G",
"hgvs_p": "p.Glu698Glu",
"transcript": "ENST00000969860.1",
"protein_id": "ENSP00000639919.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 714,
"cds_start": 2094,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969860.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.3093A>G",
"hgvs_p": "p.Glu1031Glu",
"transcript": "XM_011525286.3",
"protein_id": "XP_011523588.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1047,
"cds_start": 3093,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525286.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.3093A>G",
"hgvs_p": "p.Glu1031Glu",
"transcript": "XM_017025157.2",
"protein_id": "XP_016880646.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1047,
"cds_start": 3093,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025157.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.3093A>G",
"hgvs_p": "p.Glu1031Glu",
"transcript": "XM_024450954.2",
"protein_id": "XP_024306722.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1047,
"cds_start": 3093,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450954.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.3093A>G",
"hgvs_p": "p.Glu1031Glu",
"transcript": "XM_024450955.2",
"protein_id": "XP_024306723.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1047,
"cds_start": 3093,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450955.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.3093A>G",
"hgvs_p": "p.Glu1031Glu",
"transcript": "XM_047436823.1",
"protein_id": "XP_047292779.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1047,
"cds_start": 3093,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436823.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.3087A>G",
"hgvs_p": "p.Glu1029Glu",
"transcript": "XM_011525287.3",
"protein_id": "XP_011523589.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1045,
"cds_start": 3087,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525287.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.3078A>G",
"hgvs_p": "p.Glu1026Glu",
"transcript": "XM_047436824.1",
"protein_id": "XP_047292780.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1042,
"cds_start": 3078,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436824.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.3033A>G",
"hgvs_p": "p.Glu1011Glu",
"transcript": "XM_047436825.1",
"protein_id": "XP_047292781.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 1027,
"cds_start": 3033,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436825.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.3000A>G",
"hgvs_p": "p.Glu1000Glu",
"transcript": "XM_017025158.3",
"protein_id": "XP_016880647.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1016,
"cds_start": 3000,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025158.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.3000A>G",
"hgvs_p": "p.Glu1000Glu",
"transcript": "XM_024450956.2",
"protein_id": "XP_024306724.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1016,
"cds_start": 3000,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450956.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.3000A>G",
"hgvs_p": "p.Glu1000Glu",
"transcript": "XM_047436826.1",
"protein_id": "XP_047292782.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1016,
"cds_start": 3000,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436826.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2961A>G",
"hgvs_p": "p.Glu987Glu",
"transcript": "XM_017025159.3",
"protein_id": "XP_016880648.1",
"transcript_support_level": null,
"aa_start": 987,
"aa_end": null,
"aa_length": 1003,
"cds_start": 2961,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025159.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2955A>G",
"hgvs_p": "p.Glu985Glu",
"transcript": "XM_011525290.4",
"protein_id": "XP_011523592.1",
"transcript_support_level": null,
"aa_start": 985,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2955,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525290.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2955A>G",
"hgvs_p": "p.Glu985Glu",
"transcript": "XM_047436827.1",
"protein_id": "XP_047292783.1",
"transcript_support_level": null,
"aa_start": 985,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2955,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436827.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2946A>G",
"hgvs_p": "p.Glu982Glu",
"transcript": "XM_047436828.1",
"protein_id": "XP_047292784.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 998,
"cds_start": 2946,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436828.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2940A>G",
"hgvs_p": "p.Glu980Glu",
"transcript": "XM_047436829.1",
"protein_id": "XP_047292785.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 996,
"cds_start": 2940,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436829.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2868A>G",
"hgvs_p": "p.Glu956Glu",
"transcript": "XM_047436830.1",
"protein_id": "XP_047292786.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 972,
"cds_start": 2868,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436830.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2868A>G",
"hgvs_p": "p.Glu956Glu",
"transcript": "XM_047436831.1",
"protein_id": "XP_047292787.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 972,
"cds_start": 2868,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436831.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2868A>G",
"hgvs_p": "p.Glu956Glu",
"transcript": "XM_047436832.1",
"protein_id": "XP_047292788.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 972,
"cds_start": 2868,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436832.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2862A>G",
"hgvs_p": "p.Glu954Glu",
"transcript": "XM_047436833.1",
"protein_id": "XP_047292789.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 970,
"cds_start": 2862,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436833.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2862A>G",
"hgvs_p": "p.Glu954Glu",
"transcript": "XM_047436834.1",
"protein_id": "XP_047292790.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 970,
"cds_start": 2862,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436834.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2862A>G",
"hgvs_p": "p.Glu954Glu",
"transcript": "XM_047436835.1",
"protein_id": "XP_047292791.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 970,
"cds_start": 2862,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436835.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2799A>G",
"hgvs_p": "p.Glu933Glu",
"transcript": "XM_017025160.3",
"protein_id": "XP_016880649.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 949,
"cds_start": 2799,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025160.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2667A>G",
"hgvs_p": "p.Glu889Glu",
"transcript": "XM_047436836.1",
"protein_id": "XP_047292792.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 905,
"cds_start": 2667,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436836.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2661A>G",
"hgvs_p": "p.Glu887Glu",
"transcript": "XM_047436837.1",
"protein_id": "XP_047292793.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 903,
"cds_start": 2661,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436837.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2646A>G",
"hgvs_p": "p.Glu882Glu",
"transcript": "XM_047436838.1",
"protein_id": "XP_047292794.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 898,
"cds_start": 2646,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436838.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2574A>G",
"hgvs_p": "p.Glu858Glu",
"transcript": "XM_047436839.1",
"protein_id": "XP_047292795.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 874,
"cds_start": 2574,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436839.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2568A>G",
"hgvs_p": "p.Glu856Glu",
"transcript": "XM_047436840.1",
"protein_id": "XP_047292796.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 872,
"cds_start": 2568,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436840.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2568A>G",
"hgvs_p": "p.Glu856Glu",
"transcript": "XM_047436841.1",
"protein_id": "XP_047292797.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 872,
"cds_start": 2568,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436841.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2568A>G",
"hgvs_p": "p.Glu856Glu",
"transcript": "XM_047436842.1",
"protein_id": "XP_047292798.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 872,
"cds_start": 2568,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436842.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2514A>G",
"hgvs_p": "p.Glu838Glu",
"transcript": "XM_047436843.1",
"protein_id": "XP_047292799.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 854,
"cds_start": 2514,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436843.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "c.2376A>G",
"hgvs_p": "p.Glu792Glu",
"transcript": "XM_047436844.1",
"protein_id": "XP_047292800.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 808,
"cds_start": 2376,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436844.1"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "ZNHIT3",
"gene_hgnc_id": 12309,
"hgvs_c": "c.287-1304T>C",
"hgvs_p": null,
"transcript": "NM_001281432.2",
"protein_id": "NP_001268361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 148,
"cds_start": null,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281432.2"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNHIT3",
"gene_hgnc_id": 12309,
"hgvs_c": "c.287-1304T>C",
"hgvs_p": null,
"transcript": "ENST00000620324.4",
"protein_id": "ENSP00000479727.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 148,
"cds_start": null,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620324.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "n.*2218A>G",
"hgvs_p": null,
"transcript": "ENST00000610992.4",
"protein_id": "ENSP00000480125.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000610992.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "n.723A>G",
"hgvs_p": null,
"transcript": "ENST00000612392.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000612392.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "n.669A>G",
"hgvs_p": null,
"transcript": "ENST00000620567.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000620567.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "n.*2084A>G",
"hgvs_p": null,
"transcript": "ENST00000621550.4",
"protein_id": "ENSP00000481514.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000621550.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "n.*2218A>G",
"hgvs_p": null,
"transcript": "ENST00000610992.4",
"protein_id": "ENSP00000480125.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000610992.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"hgvs_c": "n.*2084A>G",
"hgvs_p": null,
"transcript": "ENST00000621550.4",
"protein_id": "ENSP00000481514.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000621550.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNHIT3",
"gene_hgnc_id": 12309,
"hgvs_c": "n.83-1304T>C",
"hgvs_p": null,
"transcript": "ENST00000619446.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000619446.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNHIT3",
"gene_hgnc_id": 12309,
"hgvs_c": "n.*127-1304T>C",
"hgvs_p": null,
"transcript": "ENST00000622312.4",
"protein_id": "ENSP00000478067.1",
"transcript_support_level": 4,
"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": "nonsense_mediated_decay",
"feature": "ENST00000622312.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNHIT3",
"gene_hgnc_id": 12309,
"hgvs_c": "n.274-1304T>C",
"hgvs_p": null,
"transcript": "NR_104011.2",
"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_104011.2"
}
],
"gene_symbol": "MYO19",
"gene_hgnc_id": 26234,
"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": -0.6499999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.105,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001163735.2",
"gene_symbol": "MYO19",
"hgnc_id": 26234,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2862A>G",
"hgvs_p": "p.Glu954Glu"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001281432.2",
"gene_symbol": "ZNHIT3",
"hgnc_id": 12309,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.287-1304T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}