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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: 4-87845232-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=87845232&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 87845232,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001291183.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "W",
"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": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Gly122Trp",
"transcript": "NM_020203.6",
"protein_id": "NP_064588.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 525,
"cds_start": 364,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 1982,
"mane_select": "ENST00000361056.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020203.6"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": true,
"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": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Gly122Trp",
"transcript": "ENST00000361056.4",
"protein_id": "ENSP00000354341.3",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 525,
"cds_start": 364,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 1982,
"mane_select": "NM_020203.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361056.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.*182G>T",
"hgvs_p": null,
"transcript": "ENST00000560249.6",
"protein_id": "ENSP00000453994.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 126,
"cds_start": null,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560249.6"
},
{
"aa_ref": "G",
"aa_alt": "W",
"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": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.457G>T",
"hgvs_p": "p.Gly153Trp",
"transcript": "NM_001291183.2",
"protein_id": "NP_001278112.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 556,
"cds_start": 457,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 2075,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291183.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"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": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.457G>T",
"hgvs_p": "p.Gly153Trp",
"transcript": "ENST00000395102.8",
"protein_id": "ENSP00000378534.4",
"transcript_support_level": 5,
"aa_start": 153,
"aa_end": null,
"aa_length": 556,
"cds_start": 457,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 2123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395102.8"
},
{
"aa_ref": "G",
"aa_alt": "W",
"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": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Gly122Trp",
"transcript": "NM_001184694.3",
"protein_id": "NP_001171623.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 525,
"cds_start": 364,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 2010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184694.3"
},
{
"aa_ref": "G",
"aa_alt": "W",
"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": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.364G>T",
"hgvs_p": "p.Gly122Trp",
"transcript": "ENST00000424957.8",
"protein_id": "ENSP00000416984.3",
"transcript_support_level": 2,
"aa_start": 122,
"aa_end": null,
"aa_length": 525,
"cds_start": 364,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424957.8"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.292G>T",
"hgvs_p": "p.Gly98Trp",
"transcript": "ENST00000497649.6",
"protein_id": "ENSP00000422747.1",
"transcript_support_level": 5,
"aa_start": 98,
"aa_end": null,
"aa_length": 501,
"cds_start": 292,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497649.6"
},
{
"aa_ref": "G",
"aa_alt": "W",
"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": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Gly9Trp",
"transcript": "NM_001184695.4",
"protein_id": "NP_001171624.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 412,
"cds_start": 25,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 2088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184695.4"
},
{
"aa_ref": "G",
"aa_alt": "W",
"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": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Gly9Trp",
"transcript": "NM_001184696.2",
"protein_id": "NP_001171625.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 412,
"cds_start": 25,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 2110,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184696.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.25G>T",
"hgvs_p": "p.Gly9Trp",
"transcript": "NM_001184697.2",
"protein_id": "NP_001171626.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 412,
"cds_start": 25,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 2181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184697.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.*201G>T",
"hgvs_p": null,
"transcript": "ENST00000511670.5",
"protein_id": "ENSP00000421430.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 96,
"cds_start": null,
"cds_end": null,
"cds_length": 291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511670.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEPE",
"gene_hgnc_id": 13361,
"hgvs_c": "c.*182G>T",
"hgvs_p": null,
"transcript": "ENST00000515821.5",
"protein_id": "ENSP00000509709.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 95,
"cds_start": null,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 562,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515821.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307815",
"gene_hgnc_id": 58843,
"hgvs_c": "n.285+47021C>A",
"hgvs_p": null,
"transcript": "ENST00000829020.1",
"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": 1092,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000829020.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307815",
"gene_hgnc_id": 58843,
"hgvs_c": "n.340+47021C>A",
"hgvs_p": null,
"transcript": "ENST00000829021.1",
"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": 915,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000829021.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307815",
"gene_hgnc_id": 58843,
"hgvs_c": "n.335+47021C>A",
"hgvs_p": null,
"transcript": "ENST00000829022.1",
"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": 1143,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000829022.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307815",
"gene_hgnc_id": 58843,
"hgvs_c": "n.335+47021C>A",
"hgvs_p": null,
"transcript": "ENST00000829023.1",
"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": 1143,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000829023.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307815",
"gene_hgnc_id": 58843,
"hgvs_c": "n.401+47021C>A",
"hgvs_p": null,
"transcript": "ENST00000829024.1",
"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": 1209,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000829024.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307815",
"gene_hgnc_id": 58843,
"hgvs_c": "n.327-678C>A",
"hgvs_p": null,
"transcript": "ENST00000829025.1",
"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": 495,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000829025.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307815",
"gene_hgnc_id": 58843,
"hgvs_c": "n.326-13128C>A",
"hgvs_p": null,
"transcript": "ENST00000829026.1",
"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": 489,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000829026.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307815",
"gene_hgnc_id": 58843,
"hgvs_c": "n.341-13128C>A",
"hgvs_p": null,
"transcript": "ENST00000829027.1",
"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": 504,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000829027.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307815",
"gene_hgnc_id": 58843,
"hgvs_c": "n.408-13128C>A",
"hgvs_p": null,
"transcript": "ENST00000829028.1",
"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": 568,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000829028.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307815",
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"hgvs_c": "n.322-678C>A",
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"transcript": "ENST00000829029.1",
"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": 490,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000829029.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "ENSG00000307815",
"gene_hgnc_id": 58843,
"hgvs_c": "n.335-678C>A",
"hgvs_p": null,
"transcript": "ENST00000829030.1",
"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": 503,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000829030.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307815",
"gene_hgnc_id": 58843,
"hgvs_c": "n.245-13128C>A",
"hgvs_p": null,
"transcript": "ENST00000829031.1",
"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": 408,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000829031.1"
}
],
"gene_symbol": "MEPE",
"gene_hgnc_id": 13361,
"dbsnp": "rs753243825",
"frequency_reference_population": 0.0000065729796,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657298,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3045564889907837,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.066,
"revel_prediction": "Benign",
"alphamissense_score": 0.2298,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.653,
"phylop100way_prediction": "Benign",
"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_001291183.2",
"gene_symbol": "MEPE",
"hgnc_id": 13361,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.457G>T",
"hgvs_p": "p.Gly153Trp"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000829020.1",
"gene_symbol": "ENSG00000307815",
"hgnc_id": 58843,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.285+47021C>A",
"hgvs_p": null
}
],
"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
}