← 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: 4-1332812-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1332812&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 1332812,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001017405.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.712C>G",
"hgvs_p": "p.Gln238Glu",
"transcript": "NM_001017405.3",
"protein_id": "NP_001017405.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 396,
"cds_start": 712,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000303400.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017405.3"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.712C>G",
"hgvs_p": "p.Gln238Glu",
"transcript": "ENST00000303400.9",
"protein_id": "ENSP00000302830.4",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 396,
"cds_start": 712,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001017405.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303400.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "n.512C>G",
"hgvs_p": null,
"transcript": "ENST00000509531.5",
"protein_id": "ENSP00000426966.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000509531.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.839C>G",
"hgvs_p": "p.Pro280Arg",
"transcript": "ENST00000868652.1",
"protein_id": "ENSP00000538711.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 437,
"cds_start": 839,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868652.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.826C>G",
"hgvs_p": "p.Gln276Glu",
"transcript": "ENST00000505177.6",
"protein_id": "ENSP00000422215.2",
"transcript_support_level": 5,
"aa_start": 276,
"aa_end": null,
"aa_length": 434,
"cds_start": 826,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505177.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.712C>G",
"hgvs_p": "p.Gln238Glu",
"transcript": "ENST00000868651.1",
"protein_id": "ENSP00000538710.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 404,
"cds_start": 712,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868651.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.712C>G",
"hgvs_p": "p.Gln238Glu",
"transcript": "ENST00000926212.1",
"protein_id": "ENSP00000596271.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 403,
"cds_start": 712,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926212.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.733C>G",
"hgvs_p": "p.Gln245Glu",
"transcript": "ENST00000967007.1",
"protein_id": "ENSP00000637066.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 403,
"cds_start": 733,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967007.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.709C>G",
"hgvs_p": "p.Gln237Glu",
"transcript": "NM_001297432.2",
"protein_id": "NP_001284361.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 395,
"cds_start": 709,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297432.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.709C>G",
"hgvs_p": "p.Gln237Glu",
"transcript": "ENST00000510794.5",
"protein_id": "ENSP00000426807.1",
"transcript_support_level": 2,
"aa_start": 237,
"aa_end": null,
"aa_length": 395,
"cds_start": 709,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510794.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.635C>G",
"hgvs_p": "p.Pro212Arg",
"transcript": "ENST00000967008.1",
"protein_id": "ENSP00000637067.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 394,
"cds_start": 635,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967008.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.694C>G",
"hgvs_p": "p.Gln232Glu",
"transcript": "ENST00000868655.1",
"protein_id": "ENSP00000538714.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 390,
"cds_start": 694,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868655.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.673C>G",
"hgvs_p": "p.Gln225Glu",
"transcript": "ENST00000868656.1",
"protein_id": "ENSP00000538715.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 383,
"cds_start": 673,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868656.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.712C>G",
"hgvs_p": "p.Gln238Glu",
"transcript": "ENST00000868654.1",
"protein_id": "ENSP00000538713.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 367,
"cds_start": 712,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868654.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.589C>G",
"hgvs_p": "p.Gln197Glu",
"transcript": "NM_005882.5",
"protein_id": "NP_005873.2",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 355,
"cds_start": 589,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005882.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.589C>G",
"hgvs_p": "p.Gln197Glu",
"transcript": "ENST00000264750.10",
"protein_id": "ENSP00000264750.6",
"transcript_support_level": 2,
"aa_start": 197,
"aa_end": null,
"aa_length": 355,
"cds_start": 589,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264750.10"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.568C>G",
"hgvs_p": "p.Gln190Glu",
"transcript": "NM_001297433.2",
"protein_id": "NP_001284362.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 348,
"cds_start": 568,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297433.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.568C>G",
"hgvs_p": "p.Gln190Glu",
"transcript": "ENST00000505839.1",
"protein_id": "ENSP00000424436.1",
"transcript_support_level": 2,
"aa_start": 190,
"aa_end": null,
"aa_length": 348,
"cds_start": 568,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505839.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.508C>G",
"hgvs_p": "p.Gln170Glu",
"transcript": "NM_001297430.2",
"protein_id": "NP_001284359.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 328,
"cds_start": 508,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297430.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.512C>G",
"hgvs_p": "p.Pro171Arg",
"transcript": "NM_001297431.2",
"protein_id": "NP_001284360.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 328,
"cds_start": 512,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297431.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.512C>G",
"hgvs_p": "p.Pro171Arg",
"transcript": "ENST00000514708.5",
"protein_id": "ENSP00000427512.1",
"transcript_support_level": 2,
"aa_start": 171,
"aa_end": null,
"aa_length": 328,
"cds_start": 512,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514708.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.712C>G",
"hgvs_p": "p.Gln238Glu",
"transcript": "ENST00000926213.1",
"protein_id": "ENSP00000596272.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 286,
"cds_start": 712,
"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": "ENST00000926213.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.635C>G",
"hgvs_p": "p.Pro212Arg",
"transcript": "ENST00000503653.5",
"protein_id": "ENSP00000421644.1",
"transcript_support_level": 3,
"aa_start": 212,
"aa_end": null,
"aa_length": 273,
"cds_start": 635,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503653.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.325C>G",
"hgvs_p": "p.Gln109Glu",
"transcript": "ENST00000868653.1",
"protein_id": "ENSP00000538712.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 267,
"cds_start": 325,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868653.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.202C>G",
"hgvs_p": "p.Gln68Glu",
"transcript": "ENST00000926211.1",
"protein_id": "ENSP00000596270.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 226,
"cds_start": 202,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926211.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"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": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.508C>G",
"hgvs_p": "p.Gln170Glu",
"transcript": "ENST00000502558.5",
"protein_id": "ENSP00000426903.1",
"transcript_support_level": 2,
"aa_start": 170,
"aa_end": null,
"aa_length": 182,
"cds_start": 508,
"cds_end": null,
"cds_length": 550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502558.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.712C>G",
"hgvs_p": "p.Gln238Glu",
"transcript": "XM_006713849.3",
"protein_id": "XP_006713912.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 450,
"cds_start": 712,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713849.3"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.709C>G",
"hgvs_p": "p.Gln237Glu",
"transcript": "XM_006713850.3",
"protein_id": "XP_006713913.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 449,
"cds_start": 709,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713850.3"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.568C>G",
"hgvs_p": "p.Gln190Glu",
"transcript": "XM_047449493.1",
"protein_id": "XP_047305449.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 402,
"cds_start": 568,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449493.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.635C>G",
"hgvs_p": "p.Pro212Arg",
"transcript": "XM_047449494.1",
"protein_id": "XP_047305450.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 286,
"cds_start": 635,
"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": "XM_047449494.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.705+7C>G",
"hgvs_p": null,
"transcript": "ENST00000926210.1",
"protein_id": "ENSP00000596269.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": null,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926210.1"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "c.580-4049C>G",
"hgvs_p": null,
"transcript": "ENST00000926209.1",
"protein_id": "ENSP00000596268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": null,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926209.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "n.646C>G",
"hgvs_p": null,
"transcript": "ENST00000503162.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000503162.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "n.3469C>G",
"hgvs_p": null,
"transcript": "ENST00000506530.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000506530.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "n.1003C>G",
"hgvs_p": null,
"transcript": "ENST00000512289.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000512289.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "n.252C>G",
"hgvs_p": null,
"transcript": "ENST00000515766.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000515766.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"hgvs_c": "n.535C>G",
"hgvs_p": null,
"transcript": "NR_123716.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_123716.2"
}
],
"gene_symbol": "MAEA",
"gene_hgnc_id": 13731,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.35994449257850647,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.307,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1555,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.633,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001017405.3",
"gene_symbol": "MAEA",
"hgnc_id": 13731,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.712C>G",
"hgvs_p": "p.Gln238Glu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}