← 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: 10-26173861-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=26173861&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYO3A",
"hgnc_id": 7601,
"hgvs_c": "c.3597G>C",
"hgvs_p": "p.Glu1199Asp",
"inheritance_mode": "AR,SD,AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_017433.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0791,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05742412805557251,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1616,
"aa_ref": "E",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5624,
"cdna_start": 3801,
"cds_end": null,
"cds_length": 4851,
"cds_start": 3597,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_017433.5",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.3597G>C",
"hgvs_p": "p.Glu1199Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000642920.2",
"protein_coding": true,
"protein_id": "NP_059129.3",
"strand": true,
"transcript": "NM_017433.5",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1616,
"aa_ref": "E",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5624,
"cdna_start": 3801,
"cds_end": null,
"cds_length": 4851,
"cds_start": 3597,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000642920.2",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.3597G>C",
"hgvs_p": "p.Glu1199Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017433.5",
"protein_coding": true,
"protein_id": "ENSP00000495965.1",
"strand": true,
"transcript": "ENST00000642920.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 664,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2203,
"cdna_start": null,
"cds_end": null,
"cds_length": 1995,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000543632.5",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.1777-37982G>C",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445909.1",
"strand": true,
"transcript": "ENST00000543632.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1532,
"aa_ref": "E",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5376,
"cdna_start": 3805,
"cds_end": null,
"cds_length": 4599,
"cds_start": 3597,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000916509.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.3597G>C",
"hgvs_p": "p.Glu1199Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586568.1",
"strand": true,
"transcript": "ENST00000916509.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1458,
"aa_ref": "E",
"aa_start": 1173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5166,
"cdna_start": 3738,
"cds_end": null,
"cds_length": 4377,
"cds_start": 3519,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000916508.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.3519G>C",
"hgvs_p": "p.Glu1173Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586567.1",
"strand": true,
"transcript": "ENST00000916508.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1432,
"aa_ref": "E",
"aa_start": 1147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5044,
"cdna_start": 3619,
"cds_end": null,
"cds_length": 4299,
"cds_start": 3441,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000916510.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.3441G>C",
"hgvs_p": "p.Glu1147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586569.1",
"strand": true,
"transcript": "ENST00000916510.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1616,
"aa_ref": "E",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5822,
"cdna_start": 3999,
"cds_end": null,
"cds_length": 4851,
"cds_start": 3597,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_011519498.3",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.3597G>C",
"hgvs_p": "p.Glu1199Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517800.1",
"strand": true,
"transcript": "XM_011519498.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1616,
"aa_ref": "E",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5929,
"cdna_start": 4106,
"cds_end": null,
"cds_length": 4851,
"cds_start": 3597,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_011519499.2",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.3597G>C",
"hgvs_p": "p.Glu1199Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517801.1",
"strand": true,
"transcript": "XM_011519499.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1616,
"aa_ref": "E",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5681,
"cdna_start": 3858,
"cds_end": null,
"cds_length": 4851,
"cds_start": 3597,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "XM_011519500.3",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.3597G>C",
"hgvs_p": "p.Glu1199Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517802.1",
"strand": true,
"transcript": "XM_011519500.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1612,
"aa_ref": "E",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5362,
"cdna_start": 3801,
"cds_end": null,
"cds_length": 4839,
"cds_start": 3597,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_011519502.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.3597G>C",
"hgvs_p": "p.Glu1199Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517804.1",
"strand": true,
"transcript": "XM_011519502.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1568,
"aa_ref": "E",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5480,
"cdna_start": 3801,
"cds_end": null,
"cds_length": 4707,
"cds_start": 3597,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_011519503.2",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.3597G>C",
"hgvs_p": "p.Glu1199Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517805.1",
"strand": true,
"transcript": "XM_011519503.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1565,
"aa_ref": "E",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5286,
"cdna_start": 3714,
"cds_end": null,
"cds_length": 4698,
"cds_start": 3597,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_047425355.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.3597G>C",
"hgvs_p": "p.Glu1199Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281311.1",
"strand": true,
"transcript": "XM_047425355.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1564,
"aa_ref": "E",
"aa_start": 1147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5404,
"cdna_start": 3581,
"cds_end": null,
"cds_length": 4695,
"cds_start": 3441,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_047425356.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.3441G>C",
"hgvs_p": "p.Glu1147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281312.1",
"strand": true,
"transcript": "XM_047425356.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1564,
"aa_ref": "E",
"aa_start": 1147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5381,
"cdna_start": 3558,
"cds_end": null,
"cds_length": 4695,
"cds_start": 3441,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_047425357.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.3441G>C",
"hgvs_p": "p.Glu1147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281313.1",
"strand": true,
"transcript": "XM_047425357.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1532,
"aa_ref": "E",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5372,
"cdna_start": 3801,
"cds_end": null,
"cds_length": 4599,
"cds_start": 3597,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_011519505.2",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.3597G>C",
"hgvs_p": "p.Glu1199Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517807.1",
"strand": true,
"transcript": "XM_011519505.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1523,
"aa_ref": "E",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5488,
"cdna_start": 3801,
"cds_end": null,
"cds_length": 4572,
"cds_start": 3597,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_011519506.3",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.3597G>C",
"hgvs_p": "p.Glu1199Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517808.1",
"strand": true,
"transcript": "XM_011519506.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1516,
"aa_ref": "E",
"aa_start": 1147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5324,
"cdna_start": 3645,
"cds_end": null,
"cds_length": 4551,
"cds_start": 3441,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_047425358.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.3441G>C",
"hgvs_p": "p.Glu1147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281314.1",
"strand": true,
"transcript": "XM_047425358.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1505,
"aa_ref": "E",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4805,
"cdna_start": 3801,
"cds_end": null,
"cds_length": 4518,
"cds_start": 3597,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_047425359.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.3597G>C",
"hgvs_p": "p.Glu1199Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281315.1",
"strand": true,
"transcript": "XM_047425359.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1484,
"aa_ref": "E",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5141,
"cdna_start": 3714,
"cds_end": null,
"cds_length": 4455,
"cds_start": 3597,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_047425360.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.3597G>C",
"hgvs_p": "p.Glu1199Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281316.1",
"strand": true,
"transcript": "XM_047425360.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1480,
"aa_ref": "E",
"aa_start": 1147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5129,
"cdna_start": 3558,
"cds_end": null,
"cds_length": 4443,
"cds_start": 3441,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_047425361.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.3441G>C",
"hgvs_p": "p.Glu1147Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281317.1",
"strand": true,
"transcript": "XM_047425361.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1435,
"aa_ref": "E",
"aa_start": 1199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5034,
"cdna_start": 3801,
"cds_end": null,
"cds_length": 4308,
"cds_start": 3597,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_011519508.2",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.3597G>C",
"hgvs_p": "p.Glu1199Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517810.1",
"strand": true,
"transcript": "XM_011519508.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 992,
"aa_ref": "E",
"aa_start": 575,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3628,
"cdna_start": 1805,
"cds_end": null,
"cds_length": 2979,
"cds_start": 1725,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011519512.2",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.1725G>C",
"hgvs_p": "p.Glu575Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517814.1",
"strand": true,
"transcript": "XM_011519512.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 839,
"aa_ref": "E",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3980,
"cdna_start": 2157,
"cds_end": null,
"cds_length": 2520,
"cds_start": 1266,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011519513.3",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.1266G>C",
"hgvs_p": "p.Glu422Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517815.1",
"strand": true,
"transcript": "XM_011519513.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1151,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3755,
"cdna_start": null,
"cds_end": null,
"cds_length": 3456,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047425363.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.3398+3322G>C",
"hgvs_p": null,
"intron_rank": 29,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281319.1",
"strand": true,
"transcript": "XM_047425363.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1135,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3709,
"cdna_start": null,
"cds_end": null,
"cds_length": 3408,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011519510.2",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.3398+3322G>C",
"hgvs_p": null,
"intron_rank": 29,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517812.1",
"strand": true,
"transcript": "XM_011519510.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4645,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XR_930494.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "n.3801G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_930494.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3846,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647478.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "n.*1393+3322G>C",
"hgvs_p": null,
"intron_rank": 27,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493932.1",
"strand": true,
"transcript": "ENST00000647478.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs3740232",
"effect": "missense_variant",
"frequency_reference_population": 6.841405e-7,
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84141e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.243,
"pos": 26173861,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.072,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_017433.5"
}
]
}