← 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: 7-130498199-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=130498199&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 130498199,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_002402.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Leu134Leu",
"transcript": "NM_002402.4",
"protein_id": "NP_002393.2",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 335,
"cds_start": 400,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000223215.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002402.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Leu134Leu",
"transcript": "ENST00000223215.10",
"protein_id": "ENSP00000223215.4",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 335,
"cds_start": 400,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002402.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000223215.10"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Leu125Leu",
"transcript": "ENST00000341441.9",
"protein_id": "ENSP00000342749.4",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 326,
"cds_start": 373,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341441.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Leu125Leu",
"transcript": "ENST00000416162.7",
"protein_id": "ENSP00000408933.2",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 292,
"cds_start": 373,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416162.7"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Leu125Leu",
"transcript": "NM_177524.2",
"protein_id": "NP_803490.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 326,
"cds_start": 373,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177524.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Leu125Leu",
"transcript": "NM_177525.2",
"protein_id": "NP_803491.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 326,
"cds_start": 373,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177525.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Leu125Leu",
"transcript": "ENST00000393187.5",
"protein_id": "ENSP00000376884.1",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 326,
"cds_start": 373,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393187.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Leu125Leu",
"transcript": "ENST00000462132.6",
"protein_id": "ENSP00000495770.1",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 326,
"cds_start": 373,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462132.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "c.370C>T",
"hgvs_p": "p.Leu124Leu",
"transcript": "ENST00000437945.6",
"protein_id": "ENSP00000401657.2",
"transcript_support_level": 5,
"aa_start": 124,
"aa_end": null,
"aa_length": 325,
"cds_start": 370,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437945.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "c.358C>T",
"hgvs_p": "p.Leu120Leu",
"transcript": "NM_001253900.1",
"protein_id": "NP_001240829.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 321,
"cds_start": 358,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253900.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Leu125Leu",
"transcript": "NM_001253901.1",
"protein_id": "NP_001240830.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 292,
"cds_start": 373,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253901.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Leu125Leu",
"transcript": "NM_001253902.1",
"protein_id": "NP_001240831.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 292,
"cds_start": 373,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253902.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Leu125Leu",
"transcript": "ENST00000378576.9",
"protein_id": "ENSP00000367839.4",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 292,
"cds_start": 373,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378576.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Leu125Leu",
"transcript": "ENST00000427521.6",
"protein_id": "ENSP00000409505.2",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 292,
"cds_start": 373,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427521.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Leu125Leu",
"transcript": "ENST00000421001.5",
"protein_id": "ENSP00000407222.2",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 212,
"cds_start": 373,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421001.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Leu125Leu",
"transcript": "ENST00000437637.6",
"protein_id": "ENSP00000393709.2",
"transcript_support_level": 4,
"aa_start": 125,
"aa_end": null,
"aa_length": 187,
"cds_start": 373,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437637.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Leu125Leu",
"transcript": "ENST00000458161.2",
"protein_id": "ENSP00000396504.2",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 168,
"cds_start": 373,
"cds_end": null,
"cds_length": 508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458161.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Leu125Leu",
"transcript": "ENST00000433159.5",
"protein_id": "ENSP00000409768.1",
"transcript_support_level": 3,
"aa_start": 125,
"aa_end": null,
"aa_length": 159,
"cds_start": 373,
"cds_end": null,
"cds_length": 482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433159.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "c.373C>T",
"hgvs_p": "p.Leu125Leu",
"transcript": "XM_017012218.3",
"protein_id": "XP_016867707.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 326,
"cds_start": 373,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012218.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Leu134Leu",
"transcript": "XM_011516222.3",
"protein_id": "XP_011514524.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 301,
"cds_start": 400,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516222.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "n.398C>T",
"hgvs_p": null,
"transcript": "ENST00000475188.1",
"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": "retained_intron",
"feature": "ENST00000475188.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000270823",
"gene_hgnc_id": null,
"hgvs_c": "n.229G>A",
"hgvs_p": null,
"transcript": "ENST00000604666.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000604666.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "c.-27C>T",
"hgvs_p": null,
"transcript": "ENST00000463263.1",
"protein_id": "ENSP00000473492.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": null,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463263.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "c.*20C>T",
"hgvs_p": null,
"transcript": "ENST00000399874.6",
"protein_id": "ENSP00000390589.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": null,
"cds_end": null,
"cds_length": 353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399874.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "n.-181C>T",
"hgvs_p": null,
"transcript": "ENST00000488093.1",
"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": "ENST00000488093.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"hgvs_c": "n.-26C>T",
"hgvs_p": null,
"transcript": "ENST00000494868.1",
"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": "ENST00000494868.1"
}
],
"gene_symbol": "MEST",
"gene_hgnc_id": 7028,
"dbsnp": "rs61735155",
"frequency_reference_population": 0.0032425614,
"hom_count_reference_population": 44,
"allele_count_reference_population": 5234,
"gnomad_exomes_af": 0.0027239,
"gnomad_genomes_af": 0.00822148,
"gnomad_exomes_ac": 3982,
"gnomad_genomes_ac": 1252,
"gnomad_exomes_homalt": 35,
"gnomad_genomes_homalt": 9,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3400000035762787,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.518,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_002402.4",
"gene_symbol": "MEST",
"hgnc_id": 7028,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.400C>T",
"hgvs_p": "p.Leu134Leu"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000604666.1",
"gene_symbol": "ENSG00000270823",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.229G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}