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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: 3-38140423-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=38140423&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 38140423,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001172567.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.499T>C",
"hgvs_p": "p.Tyr167His",
"transcript": "NM_002468.5",
"protein_id": "NP_002459.3",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 296,
"cds_start": 499,
"cds_end": null,
"cds_length": 891,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 2667,
"mane_select": "ENST00000650905.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002468.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.499T>C",
"hgvs_p": "p.Tyr167His",
"transcript": "ENST00000650905.2",
"protein_id": "ENSP00000498360.2",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 296,
"cds_start": 499,
"cds_end": null,
"cds_length": 891,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 2667,
"mane_select": "NM_002468.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650905.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.499T>C",
"hgvs_p": "p.Tyr167His",
"transcript": "ENST00000421516.3",
"protein_id": "ENSP00000391753.3",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 304,
"cds_start": 499,
"cds_end": null,
"cds_length": 915,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421516.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.364T>C",
"hgvs_p": "p.Tyr122His",
"transcript": "ENST00000417037.8",
"protein_id": "ENSP00000401399.4",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 251,
"cds_start": 364,
"cds_end": null,
"cds_length": 756,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 2638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417037.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "n.414T>C",
"hgvs_p": null,
"transcript": "ENST00000416282.3",
"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": 2725,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000416282.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.535T>C",
"hgvs_p": "p.Tyr179His",
"transcript": "ENST00000969068.1",
"protein_id": "ENSP00000639127.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 308,
"cds_start": 535,
"cds_end": null,
"cds_length": 927,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 2692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969068.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.499T>C",
"hgvs_p": "p.Tyr167His",
"transcript": "NM_001172567.2",
"protein_id": "NP_001166038.2",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 304,
"cds_start": 499,
"cds_end": null,
"cds_length": 915,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172567.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.499T>C",
"hgvs_p": "p.Tyr167His",
"transcript": "ENST00000969067.1",
"protein_id": "ENSP00000639126.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 297,
"cds_start": 499,
"cds_end": null,
"cds_length": 894,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 2691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969067.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.499T>C",
"hgvs_p": "p.Tyr167His",
"transcript": "ENST00000862995.1",
"protein_id": "ENSP00000533054.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 286,
"cds_start": 499,
"cds_end": null,
"cds_length": 861,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862995.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.499T>C",
"hgvs_p": "p.Tyr167His",
"transcript": "ENST00000969069.1",
"protein_id": "ENSP00000639128.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 272,
"cds_start": 499,
"cds_end": null,
"cds_length": 819,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969069.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.364T>C",
"hgvs_p": "p.Tyr122His",
"transcript": "ENST00000969070.1",
"protein_id": "ENSP00000639129.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 259,
"cds_start": 364,
"cds_end": null,
"cds_length": 780,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969070.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.364T>C",
"hgvs_p": "p.Tyr122His",
"transcript": "NM_001172568.2",
"protein_id": "NP_001166039.2",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 251,
"cds_start": 364,
"cds_end": null,
"cds_length": 756,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 2532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172568.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.499T>C",
"hgvs_p": "p.Tyr167His",
"transcript": "NM_001365876.1",
"protein_id": "NP_001352805.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 245,
"cds_start": 499,
"cds_end": null,
"cds_length": 738,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365876.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.499T>C",
"hgvs_p": "p.Tyr167His",
"transcript": "ENST00000652213.1",
"protein_id": "ENSP00000498576.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 245,
"cds_start": 499,
"cds_end": null,
"cds_length": 738,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 2655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652213.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.499T>C",
"hgvs_p": "p.Tyr167His",
"transcript": "NM_001374787.1",
"protein_id": "NP_001361716.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 237,
"cds_start": 499,
"cds_end": null,
"cds_length": 714,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374787.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.364T>C",
"hgvs_p": "p.Tyr122His",
"transcript": "NM_001365877.1",
"protein_id": "NP_001352806.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 200,
"cds_start": 364,
"cds_end": null,
"cds_length": 603,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365877.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.298T>C",
"hgvs_p": "p.Tyr100His",
"transcript": "ENST00000699086.1",
"protein_id": "ENSP00000514121.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 178,
"cds_start": 298,
"cds_end": null,
"cds_length": 537,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 2398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699086.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.464-334T>C",
"hgvs_p": null,
"transcript": "NM_001172569.3",
"protein_id": "NP_001166040.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2486,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172569.3"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.464-334T>C",
"hgvs_p": null,
"transcript": "ENST00000651800.2",
"protein_id": "ENSP00000499012.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651800.2"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.329-334T>C",
"hgvs_p": null,
"transcript": "NM_001172566.2",
"protein_id": "NP_001166037.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": null,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172566.2"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.329-334T>C",
"hgvs_p": null,
"transcript": "ENST00000650112.2",
"protein_id": "ENSP00000497991.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": null,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650112.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "n.932T>C",
"hgvs_p": null,
"transcript": "ENST00000460295.1",
"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": 1088,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000460295.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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{
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{
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],
"gene_symbol": "MYD88",
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"dbsnp": "rs186265242",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.00000752451,
"gnomad_genomes_af": 0.0000459523,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6582175493240356,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.675,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9204,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.735,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001172567.2",
"gene_symbol": "MYD88",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.499T>C",
"hgvs_p": "p.Tyr167His"
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],
"clinvar_disease": "Pyogenic bacterial infections due to MyD88 deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Pyogenic bacterial infections due to MyD88 deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}