← 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: 4-1339092-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1339092&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MAEA",
"hgnc_id": 13731,
"hgvs_c": "c.1114C>A",
"hgvs_p": "p.Gln372Lys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001017405.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0886,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "4",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13663354516029358,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 396,
"aa_ref": "Q",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2182,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001017405.3",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.1114C>A",
"hgvs_p": "p.Gln372Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000303400.9",
"protein_coding": true,
"protein_id": "NP_001017405.1",
"strand": true,
"transcript": "NM_001017405.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 396,
"aa_ref": "Q",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2182,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000303400.9",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.1114C>A",
"hgvs_p": "p.Gln372Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001017405.3",
"protein_coding": true,
"protein_id": "ENSP00000302830.4",
"strand": true,
"transcript": "ENST00000303400.9",
"transcript_support_level": 1
},
{
"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": 1001,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000509531.5",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "n.*176C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000426966.1",
"strand": true,
"transcript": "ENST00000509531.5",
"transcript_support_level": 1
},
{
"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": 1001,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000509531.5",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "n.*176C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000426966.1",
"strand": true,
"transcript": "ENST00000509531.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 437,
"aa_ref": "Q",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2302,
"cdna_start": 1257,
"cds_end": null,
"cds_length": 1314,
"cds_start": 1237,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000868652.1",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.1237C>A",
"hgvs_p": "p.Gln413Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538711.1",
"strand": true,
"transcript": "ENST00000868652.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 434,
"aa_ref": "Q",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1340,
"cdna_start": 1255,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000505177.6",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Gln410Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422215.2",
"strand": true,
"transcript": "ENST00000505177.6",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 404,
"aa_ref": "Q",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2221,
"cdna_start": 1176,
"cds_end": null,
"cds_length": 1215,
"cds_start": 1138,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000868651.1",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.1138C>A",
"hgvs_p": "p.Gln380Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538710.1",
"strand": true,
"transcript": "ENST00000868651.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 403,
"aa_ref": "Q",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2174,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 1212,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000926212.1",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.1135C>A",
"hgvs_p": "p.Gln379Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596271.1",
"strand": true,
"transcript": "ENST00000926212.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 403,
"aa_ref": "Q",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 1156,
"cds_end": null,
"cds_length": 1212,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000967007.1",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.1135C>A",
"hgvs_p": "p.Gln379Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637066.1",
"strand": true,
"transcript": "ENST00000967007.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 395,
"aa_ref": "Q",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": 1315,
"cds_end": null,
"cds_length": 1188,
"cds_start": 1111,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001297432.2",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.1111C>A",
"hgvs_p": "p.Gln371Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284361.1",
"strand": true,
"transcript": "NM_001297432.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 395,
"aa_ref": "Q",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1607,
"cdna_start": 1315,
"cds_end": null,
"cds_length": 1188,
"cds_start": 1111,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000510794.5",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.1111C>A",
"hgvs_p": "p.Gln371Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426807.1",
"strand": true,
"transcript": "ENST00000510794.5",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 394,
"aa_ref": "Q",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2157,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 1185,
"cds_start": 1108,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000967008.1",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.1108C>A",
"hgvs_p": "p.Gln370Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637067.1",
"strand": true,
"transcript": "ENST00000967008.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 390,
"aa_ref": "Q",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2136,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1173,
"cds_start": 1096,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000868655.1",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.1096C>A",
"hgvs_p": "p.Gln366Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538714.1",
"strand": true,
"transcript": "ENST00000868655.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 383,
"aa_ref": "Q",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2112,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 1152,
"cds_start": 1075,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000868656.1",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.1075C>A",
"hgvs_p": "p.Gln359Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538715.1",
"strand": true,
"transcript": "ENST00000868656.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 367,
"aa_ref": "Q",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2075,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 1104,
"cds_start": 1027,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000868654.1",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.1027C>A",
"hgvs_p": "p.Gln343Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538713.1",
"strand": true,
"transcript": "ENST00000868654.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 355,
"aa_ref": "Q",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2059,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1068,
"cds_start": 991,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_005882.5",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.991C>A",
"hgvs_p": "p.Gln331Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005873.2",
"strand": true,
"transcript": "NM_005882.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 355,
"aa_ref": "Q",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1068,
"cds_start": 991,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000264750.10",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.991C>A",
"hgvs_p": "p.Gln331Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000264750.6",
"strand": true,
"transcript": "ENST00000264750.10",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 348,
"aa_ref": "Q",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2300,
"cdna_start": 1255,
"cds_end": null,
"cds_length": 1047,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001297433.2",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.970C>A",
"hgvs_p": "p.Gln324Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284362.1",
"strand": true,
"transcript": "NM_001297433.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 348,
"aa_ref": "Q",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1444,
"cdna_start": 1255,
"cds_end": null,
"cds_length": 1047,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000505839.1",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.970C>A",
"hgvs_p": "p.Gln324Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424436.1",
"strand": true,
"transcript": "ENST00000505839.1",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 340,
"aa_ref": "Q",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2002,
"cdna_start": 958,
"cds_end": null,
"cds_length": 1023,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000926210.1",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.946C>A",
"hgvs_p": "p.Gln316Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596269.1",
"strand": true,
"transcript": "ENST00000926210.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 334,
"aa_ref": "Q",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2005,
"cdna_start": 960,
"cds_end": null,
"cds_length": 1005,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000926209.1",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.928C>A",
"hgvs_p": "p.Gln310Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596268.1",
"strand": true,
"transcript": "ENST00000926209.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 328,
"aa_ref": "Q",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1978,
"cdna_start": 933,
"cds_end": null,
"cds_length": 987,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001297430.2",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.910C>A",
"hgvs_p": "p.Gln304Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284359.1",
"strand": true,
"transcript": "NM_001297430.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 328,
"aa_ref": "Q",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1978,
"cdna_start": 933,
"cds_end": null,
"cds_length": 987,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001297431.2",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.910C>A",
"hgvs_p": "p.Gln304Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284360.1",
"strand": true,
"transcript": "NM_001297431.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 328,
"aa_ref": "Q",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1945,
"cdna_start": 929,
"cds_end": null,
"cds_length": 987,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000514708.5",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.910C>A",
"hgvs_p": "p.Gln304Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427512.1",
"strand": true,
"transcript": "ENST00000514708.5",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 286,
"aa_ref": "Q",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1810,
"cdna_start": 792,
"cds_end": null,
"cds_length": 861,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000926213.1",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.784C>A",
"hgvs_p": "p.Gln262Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596272.1",
"strand": true,
"transcript": "ENST00000926213.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 267,
"aa_ref": "Q",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1784,
"cdna_start": 739,
"cds_end": null,
"cds_length": 804,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000868653.1",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.727C>A",
"hgvs_p": "p.Gln243Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538712.1",
"strand": true,
"transcript": "ENST00000868653.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 226,
"aa_ref": "Q",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1655,
"cdna_start": 611,
"cds_end": null,
"cds_length": 681,
"cds_start": 604,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000926211.1",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.604C>A",
"hgvs_p": "p.Gln202Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596270.1",
"strand": true,
"transcript": "ENST00000926211.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2069,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000503162.1",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "n.1048C>A",
"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": "ENST00000503162.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5371,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000506530.5",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "n.4327C>A",
"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": "ENST00000506530.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2426,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000512289.5",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "n.1405C>A",
"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": "ENST00000512289.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3136,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000515766.1",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "n.2081C>A",
"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": "ENST00000515766.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1982,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NR_123716.2",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "n.937C>A",
"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": "NR_123716.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 450,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1567,
"cdna_start": null,
"cds_end": null,
"cds_length": 1353,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006713849.3",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.*217C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713912.1",
"strand": true,
"transcript": "XM_006713849.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 449,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1746,
"cdna_start": null,
"cds_end": null,
"cds_length": 1350,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006713850.3",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.*217C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713913.1",
"strand": true,
"transcript": "XM_006713850.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 402,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1618,
"cdna_start": null,
"cds_end": null,
"cds_length": 1209,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047449493.1",
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"hgvs_c": "c.*217C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305449.1",
"strand": true,
"transcript": "XM_047449493.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs749219110",
"effect": "missense_variant",
"frequency_reference_population": 6.841986e-7,
"gene_hgnc_id": 13731,
"gene_symbol": "MAEA",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84199e-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": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.866,
"pos": 1339092,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.232,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.15000000596046448,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.15,
"transcript": "NM_001017405.3"
}
]
}