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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: 3-68998059-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=68998059&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 68998059,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000383701.8",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "NM_001278689.2",
"protein_id": "NP_001265618.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 527,
"cds_start": 783,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 4443,
"mane_select": "ENST00000383701.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "ENST00000383701.8",
"protein_id": "ENSP00000373206.3",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 527,
"cds_start": 783,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 4443,
"mane_select": "NM_001278689.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "ENST00000540764.5",
"protein_id": "ENSP00000443780.2",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 527,
"cds_start": 783,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 1584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "ENST00000295571.9",
"protein_id": "ENSP00000295571.5",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 443,
"cds_start": 783,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "NM_173654.3",
"protein_id": "NP_775925.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 443,
"cds_start": 783,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 4191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "ENST00000540955.5",
"protein_id": "ENSP00000444264.2",
"transcript_support_level": 2,
"aa_start": 261,
"aa_end": null,
"aa_length": 443,
"cds_start": 783,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 1332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "XM_011533599.2",
"protein_id": "XP_011531901.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 545,
"cds_start": 783,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 4644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "XM_011533600.2",
"protein_id": "XP_011531902.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 545,
"cds_start": 783,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "XM_011533602.2",
"protein_id": "XP_011531904.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 545,
"cds_start": 783,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 4409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "XM_047448000.1",
"protein_id": "XP_047303956.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 545,
"cds_start": 783,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1399,
"cdna_end": null,
"cdna_length": 4647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "XM_047448001.1",
"protein_id": "XP_047303957.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 545,
"cds_start": 783,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 4768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "XM_011533603.2",
"protein_id": "XP_011531905.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 544,
"cds_start": 783,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 4641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "XM_017006204.2",
"protein_id": "XP_016861693.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 544,
"cds_start": 783,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 4494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "XM_047448002.1",
"protein_id": "XP_047303958.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 544,
"cds_start": 783,
"cds_end": null,
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"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 4795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "XM_047448003.1",
"protein_id": "XP_047303959.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 544,
"cds_start": 783,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 4406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "XM_047448004.1",
"protein_id": "XP_047303960.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 544,
"cds_start": 783,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1307,
"cdna_end": null,
"cdna_length": 4552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "XM_005264743.3",
"protein_id": "XP_005264800.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 527,
"cds_start": 783,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "XM_017006205.2",
"protein_id": "XP_016861694.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 527,
"cds_start": 783,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 4355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "XM_017006206.2",
"protein_id": "XP_016861695.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 527,
"cds_start": 783,
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"cdna_start": 1352,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "XM_047448005.1",
"protein_id": "XP_047303961.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 527,
"cds_start": 783,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 4609,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "XM_047448006.1",
"protein_id": "XP_047303962.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 527,
"cds_start": 783,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1559,
"cdna_end": null,
"cdna_length": 4753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.48C>T",
"hgvs_p": "p.His16His",
"transcript": "XM_017006207.2",
"protein_id": "XP_016861696.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 300,
"cds_start": 48,
"cds_end": null,
"cds_length": 903,
"cdna_start": 122,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His",
"transcript": "XM_017006208.2",
"protein_id": "XP_016861697.1",
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},
{
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"canonical": false,
"protein_coding": false,
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],
"exon_rank": 2,
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"exon_count": 9,
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"transcript": "ENST00000496647.5",
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},
{
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"consequences": [
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],
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"exon_count": 16,
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"transcript": "ENST00000403140.6",
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},
{
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],
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"gene_symbol": "EOGT",
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"hgvs_c": "n.1086+6319C>T",
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"transcript": "NR_103826.2",
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},
{
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"protein_coding": true,
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"intron_variant"
],
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"exon_count": 9,
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"gene_symbol": "EOGT",
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"hgvs_c": "c.6+3549C>T",
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"transcript": "XM_017006209.2",
"protein_id": "XP_016861698.1",
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}
],
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"dbsnp": "rs147327086",
"frequency_reference_population": 0.0053445753,
"hom_count_reference_population": 42,
"allele_count_reference_population": 8560,
"gnomad_exomes_af": 0.005508,
"gnomad_genomes_af": 0.00378912,
"gnomad_exomes_ac": 7983,
"gnomad_genomes_ac": 577,
"gnomad_exomes_homalt": 39,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7699999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.374,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000383701.8",
"gene_symbol": "EOGT",
"hgnc_id": 28526,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.783C>T",
"hgvs_p": "p.His261His"
}
],
"clinvar_disease": "Adams-Oliver syndrome 4,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"phenotype_combined": "Adams-Oliver syndrome 4|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}