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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: 3-38141150-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=38141150&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 38141150,
"ref": "T",
"alt": "C",
"effect": "stop_lost",
"transcript": "NM_001365876.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.755T>C",
"hgvs_p": "p.Leu252Pro",
"transcript": "NM_002468.5",
"protein_id": "NP_002459.3",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 296,
"cds_start": 755,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000650905.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002468.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.755T>C",
"hgvs_p": "p.Leu252Pro",
"transcript": "ENST00000650905.2",
"protein_id": "ENSP00000498360.2",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 296,
"cds_start": 755,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002468.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650905.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.779T>C",
"hgvs_p": "p.Leu260Pro",
"transcript": "ENST00000421516.3",
"protein_id": "ENSP00000391753.3",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 304,
"cds_start": 779,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421516.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.620T>C",
"hgvs_p": "p.Leu207Pro",
"transcript": "ENST00000417037.8",
"protein_id": "ENSP00000401399.4",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 251,
"cds_start": 620,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "n.858T>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000416282.3"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.736T>C",
"hgvs_p": "p.Ter246Argext*?",
"transcript": "NM_001365876.1",
"protein_id": "NP_001352805.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 245,
"cds_start": 736,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365876.1"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.736T>C",
"hgvs_p": "p.Ter246Argext*?",
"transcript": "ENST00000652213.1",
"protein_id": "ENSP00000498576.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 245,
"cds_start": 736,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652213.1"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.712T>C",
"hgvs_p": "p.Ter238Argext*?",
"transcript": "NM_001374787.1",
"protein_id": "NP_001361716.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 237,
"cds_start": 712,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374787.1"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Ter201Argext*?",
"transcript": "NM_001365877.1",
"protein_id": "NP_001352806.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 200,
"cds_start": 601,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365877.1"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.574T>C",
"hgvs_p": "p.Ter192Argext*?",
"transcript": "NM_001172569.3",
"protein_id": "NP_001166040.2",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 191,
"cds_start": 574,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172569.3"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.574T>C",
"hgvs_p": "p.Ter192Argext*?",
"transcript": "ENST00000651800.2",
"protein_id": "ENSP00000499012.2",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 191,
"cds_start": 574,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651800.2"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.535T>C",
"hgvs_p": "p.Ter179Argext*?",
"transcript": "ENST00000699086.1",
"protein_id": "ENSP00000514121.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 178,
"cds_start": 535,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699086.1"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.439T>C",
"hgvs_p": "p.Ter147Argext*?",
"transcript": "NM_001172566.2",
"protein_id": "NP_001166037.2",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 146,
"cds_start": 439,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172566.2"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.439T>C",
"hgvs_p": "p.Ter147Argext*?",
"transcript": "ENST00000650112.2",
"protein_id": "ENSP00000497991.2",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 146,
"cds_start": 439,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650112.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.791T>C",
"hgvs_p": "p.Leu264Pro",
"transcript": "ENST00000969068.1",
"protein_id": "ENSP00000639127.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 308,
"cds_start": 791,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969068.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.779T>C",
"hgvs_p": "p.Leu260Pro",
"transcript": "NM_001172567.2",
"protein_id": "NP_001166038.2",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 304,
"cds_start": 779,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172567.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.758T>C",
"hgvs_p": "p.Leu253Pro",
"transcript": "ENST00000969067.1",
"protein_id": "ENSP00000639126.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 297,
"cds_start": 758,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969067.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.725T>C",
"hgvs_p": "p.Leu242Pro",
"transcript": "ENST00000862995.1",
"protein_id": "ENSP00000533054.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 286,
"cds_start": 725,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862995.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Leu228Pro",
"transcript": "ENST00000969069.1",
"protein_id": "ENSP00000639128.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 272,
"cds_start": 683,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969069.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.644T>C",
"hgvs_p": "p.Leu215Pro",
"transcript": "ENST00000969070.1",
"protein_id": "ENSP00000639129.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 259,
"cds_start": 644,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969070.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "c.620T>C",
"hgvs_p": "p.Leu207Pro",
"transcript": "NM_001172568.2",
"protein_id": "NP_001166039.2",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 251,
"cds_start": 620,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172568.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "n.542T>C",
"hgvs_p": null,
"transcript": "ENST00000463956.2",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000463956.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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],
"exon_rank": 5,
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"biotype": "pseudogene",
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{
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"protein_coding": false,
"strand": true,
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],
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"exon_count": 2,
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"gene_symbol": "MYD88",
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"hgvs_c": "n.2233T>C",
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"transcript": "ENST00000484513.2",
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"cds_end": null,
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"cdna_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000484513.2"
},
{
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"protein_coding": false,
"strand": true,
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],
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "MYD88",
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"hgvs_c": "n.983T>C",
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"transcript": "ENST00000652590.1",
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"feature": "ENST00000652590.1"
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "n.1844T>C",
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"transcript": "ENST00000699084.1",
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"cdna_start": null,
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"feature": "ENST00000699084.1"
},
{
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"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 4,
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"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"hgvs_c": "n.1620T>C",
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"transcript": "ENST00000699085.1",
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"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": "ENST00000699085.1"
}
],
"gene_symbol": "MYD88",
"gene_hgnc_id": 7562,
"dbsnp": "rs387907272",
"frequency_reference_population": 0.000026021338,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.0000266803,
"gnomad_genomes_af": 0.0000196967,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7411302328109741,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.735,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9974,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.865,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001365876.1",
"gene_symbol": "MYD88",
"hgnc_id": 7562,
"effects": [
"stop_lost"
],
"inheritance_mode": "AR",
"hgvs_c": "c.736T>C",
"hgvs_p": "p.Ter246Argext*?"
}
],
"clinvar_disease": " Waldenstrom, diffuse, large B-cell, somatic,Macroglobulinemia,Malignant lymphoma,Neoplasm,Pyogenic bacterial infections due to MyD88 deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Macroglobulinemia, Waldenstrom, somatic|Pyogenic bacterial infections due to MyD88 deficiency|Malignant lymphoma, large B-cell, diffuse|Neoplasm",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}