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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: 1-109753150-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=109753150&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 109753150,
"ref": "T",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000361965.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1167A>T",
"hgvs_p": "p.Ser389Ser",
"transcript": "NM_133181.4",
"protein_id": "NP_573444.2",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 593,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": "ENST00000361965.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1167A>T",
"hgvs_p": "p.Ser389Ser",
"transcript": "ENST00000361965.9",
"protein_id": "ENSP00000355255.4",
"transcript_support_level": 1,
"aa_start": 389,
"aa_end": null,
"aa_length": 593,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": "NM_133181.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1170A>T",
"hgvs_p": "p.Ser390Ser",
"transcript": "ENST00000369805.7",
"protein_id": "ENSP00000358820.3",
"transcript_support_level": 1,
"aa_start": 390,
"aa_end": null,
"aa_length": 594,
"cds_start": 1170,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 2325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1167A>T",
"hgvs_p": "p.Ser389Ser",
"transcript": "ENST00000361852.8",
"protein_id": "ENSP00000354551.4",
"transcript_support_level": 1,
"aa_start": 389,
"aa_end": null,
"aa_length": 563,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "n.*1136A>T",
"hgvs_p": null,
"transcript": "ENST00000472325.5",
"protein_id": "ENSP00000483789.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "n.*1136A>T",
"hgvs_p": null,
"transcript": "ENST00000472325.5",
"protein_id": "ENSP00000483789.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1170A>T",
"hgvs_p": "p.Ser390Ser",
"transcript": "NM_139053.3",
"protein_id": "NP_620641.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 594,
"cds_start": 1170,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1167A>T",
"hgvs_p": "p.Ser389Ser",
"transcript": "NM_024526.4",
"protein_id": "NP_078802.2",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 563,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1293,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1068A>T",
"hgvs_p": "p.Ser356Ser",
"transcript": "NM_001319952.2",
"protein_id": "NP_001306881.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 530,
"cds_start": 1068,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1194A>T",
"hgvs_p": "p.Ser398Ser",
"transcript": "XM_011542132.3",
"protein_id": "XP_011540434.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 602,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1191A>T",
"hgvs_p": "p.Ser397Ser",
"transcript": "XM_011542133.3",
"protein_id": "XP_011540435.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 601,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 1317,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1194A>T",
"hgvs_p": "p.Ser398Ser",
"transcript": "XM_017002327.3",
"protein_id": "XP_016857816.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 575,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1194A>T",
"hgvs_p": "p.Ser398Ser",
"transcript": "XM_017002328.3",
"protein_id": "XP_016857817.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 572,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 2156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1092A>T",
"hgvs_p": "p.Ser364Ser",
"transcript": "XM_011542134.4",
"protein_id": "XP_011540436.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 568,
"cds_start": 1092,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 2191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1092A>T",
"hgvs_p": "p.Ser364Ser",
"transcript": "XM_047430369.1",
"protein_id": "XP_047286325.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 568,
"cds_start": 1092,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 2308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1092A>T",
"hgvs_p": "p.Ser364Ser",
"transcript": "XM_047430384.1",
"protein_id": "XP_047286340.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 568,
"cds_start": 1092,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 2253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1170A>T",
"hgvs_p": "p.Ser390Ser",
"transcript": "XM_017002329.3",
"protein_id": "XP_016857818.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 564,
"cds_start": 1170,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 2132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1068A>T",
"hgvs_p": "p.Ser356Ser",
"transcript": "XM_047430379.1",
"protein_id": "XP_047286335.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 560,
"cds_start": 1068,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 2167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1065A>T",
"hgvs_p": "p.Ser355Ser",
"transcript": "XM_047430380.1",
"protein_id": "XP_047286336.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 559,
"cds_start": 1065,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 2164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1065A>T",
"hgvs_p": "p.Ser355Ser",
"transcript": "XM_047430382.1",
"protein_id": "XP_047286338.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 559,
"cds_start": 1065,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "c.1092A>T",
"hgvs_p": "p.Ser364Ser",
"transcript": "XM_011542135.4",
"protein_id": "XP_011540437.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 538,
"cds_start": 1092,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "n.1320A>T",
"hgvs_p": null,
"transcript": "XR_001737407.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L3",
"gene_hgnc_id": 21297,
"hgvs_c": "n.1320A>T",
"hgvs_p": null,
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},
{
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},
{
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"intron_variant"
],
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"gene_symbol": "ENSG00000241720",
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}
],
"gene_symbol": "EPS8L3",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.949999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.087,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000361965.9",
"gene_symbol": "EPS8L3",
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"effects": [
"synonymous_variant"
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"inheritance_mode": "AD",
"hgvs_c": "c.1167A>T",
"hgvs_p": "p.Ser389Ser"
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{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000429410.2",
"gene_symbol": "GSTM5",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000431955.1",
"gene_symbol": "ENSG00000241720",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.627+16009T>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}