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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: 10-26154749-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=26154749&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 26154749,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000642920.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Asp907Asn",
"transcript": "NM_017433.5",
"protein_id": "NP_059129.3",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1616,
"cds_start": 2719,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 2923,
"cdna_end": null,
"cdna_length": 5624,
"mane_select": "ENST00000642920.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Asp907Asn",
"transcript": "ENST00000642920.2",
"protein_id": "ENSP00000495965.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1616,
"cds_start": 2719,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 2923,
"cdna_end": null,
"cdna_length": 5624,
"mane_select": "NM_017433.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1777-57094G>A",
"hgvs_p": null,
"transcript": "ENST00000543632.5",
"protein_id": "ENSP00000445909.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 664,
"cds_start": -4,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Asp907Asn",
"transcript": "XM_011519498.3",
"protein_id": "XP_011517800.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1616,
"cds_start": 2719,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 3121,
"cdna_end": null,
"cdna_length": 5822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Asp907Asn",
"transcript": "XM_011519499.2",
"protein_id": "XP_011517801.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1616,
"cds_start": 2719,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 3228,
"cdna_end": null,
"cdna_length": 5929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Asp907Asn",
"transcript": "XM_011519500.3",
"protein_id": "XP_011517802.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1616,
"cds_start": 2719,
"cds_end": null,
"cds_length": 4851,
"cdna_start": 2980,
"cdna_end": null,
"cdna_length": 5681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Asp907Asn",
"transcript": "XM_011519502.1",
"protein_id": "XP_011517804.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1612,
"cds_start": 2719,
"cds_end": null,
"cds_length": 4839,
"cdna_start": 2923,
"cdna_end": null,
"cdna_length": 5362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Asp907Asn",
"transcript": "XM_011519503.2",
"protein_id": "XP_011517805.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1568,
"cds_start": 2719,
"cds_end": null,
"cds_length": 4707,
"cdna_start": 2923,
"cdna_end": null,
"cdna_length": 5480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Asp907Asn",
"transcript": "XM_047425355.1",
"protein_id": "XP_047281311.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1565,
"cds_start": 2719,
"cds_end": null,
"cds_length": 4698,
"cdna_start": 2836,
"cdna_end": null,
"cdna_length": 5286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2563G>A",
"hgvs_p": "p.Asp855Asn",
"transcript": "XM_047425356.1",
"protein_id": "XP_047281312.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1564,
"cds_start": 2563,
"cds_end": null,
"cds_length": 4695,
"cdna_start": 2703,
"cdna_end": null,
"cdna_length": 5404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2563G>A",
"hgvs_p": "p.Asp855Asn",
"transcript": "XM_047425357.1",
"protein_id": "XP_047281313.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1564,
"cds_start": 2563,
"cds_end": null,
"cds_length": 4695,
"cdna_start": 2680,
"cdna_end": null,
"cdna_length": 5381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Asp907Asn",
"transcript": "XM_011519505.2",
"protein_id": "XP_011517807.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1532,
"cds_start": 2719,
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"cdna_start": 2923,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Asp907Asn",
"transcript": "XM_011519506.3",
"protein_id": "XP_011517808.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1523,
"cds_start": 2719,
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"cds_length": 4572,
"cdna_start": 2923,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 24,
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"exon_count": 33,
"intron_rank": null,
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"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2563G>A",
"hgvs_p": "p.Asp855Asn",
"transcript": "XM_047425358.1",
"protein_id": "XP_047281314.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Asp907Asn",
"transcript": "XM_047425359.1",
"protein_id": "XP_047281315.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1505,
"cds_start": 2719,
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"cdna_start": 2923,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
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"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Asp907Asn",
"transcript": "XM_047425360.1",
"protein_id": "XP_047281316.1",
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2563G>A",
"hgvs_p": "p.Asp855Asn",
"transcript": "XM_047425361.1",
"protein_id": "XP_047281317.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1480,
"cds_start": 2563,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Asp907Asn",
"transcript": "XM_011519508.2",
"protein_id": "XP_011517810.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1435,
"cds_start": 2719,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
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"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Asp907Asn",
"transcript": "XM_047425363.1",
"protein_id": "XP_047281319.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Asp907Asn",
"transcript": "XM_011519510.2",
"protein_id": "XP_011517812.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Asp907Asn",
"transcript": "XM_011519511.3",
"protein_id": "XP_011517813.1",
"transcript_support_level": null,
"aa_start": 907,
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"aa_length": 1009,
"cds_start": 2719,
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"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Asp283Asn",
"transcript": "XM_011519512.2",
"protein_id": "XP_011517814.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 992,
"cds_start": 847,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.388G>A",
"hgvs_p": "p.Asp130Asn",
"transcript": "XM_011519513.3",
"protein_id": "XP_011517815.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 839,
"cds_start": 388,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 3980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "n.2923G>A",
"hgvs_p": null,
"transcript": "ENST00000642197.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "n.*714G>A",
"hgvs_p": null,
"transcript": "ENST00000647478.1",
"protein_id": "ENSP00000493932.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "n.2923G>A",
"hgvs_p": null,
"transcript": "XR_930494.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "n.*714G>A",
"hgvs_p": null,
"transcript": "ENST00000647478.1",
"protein_id": "ENSP00000493932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"dbsnp": "rs727503325",
"frequency_reference_population": 0.000006843091,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000684309,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2258402407169342,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.377,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0765,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.486,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.11,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000642920.2",
"gene_symbol": "MYO3A",
"hgnc_id": 7601,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,SD,AD",
"hgvs_c": "c.2719G>A",
"hgvs_p": "p.Asp907Asn"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}