← 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: 3-68977680-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=68977680&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EOGT",
"hgnc_id": 28526,
"hgvs_c": "c.1522G>T",
"hgvs_p": "p.Ala508Ser",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001278689.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1539,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.1,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.48385950922966003,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "A",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4443,
"cdna_start": 1988,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1522,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001278689.2",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.1522G>T",
"hgvs_p": "p.Ala508Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000383701.8",
"protein_coding": true,
"protein_id": "NP_001265618.1",
"strand": false,
"transcript": "NM_001278689.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "A",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4443,
"cdna_start": 1988,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1522,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000383701.8",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.1522G>T",
"hgvs_p": "p.Ala508Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001278689.2",
"protein_coding": true,
"protein_id": "ENSP00000373206.3",
"strand": false,
"transcript": "ENST00000383701.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 443,
"aa_ref": "A",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4138,
"cdna_start": 1675,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000295571.9",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.1270G>T",
"hgvs_p": "p.Ala424Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000295571.5",
"strand": false,
"transcript": "ENST00000295571.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "A",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2368,
"cdna_start": 2210,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1522,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000894422.1",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.1522G>T",
"hgvs_p": "p.Ala508Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564481.1",
"strand": false,
"transcript": "ENST00000894422.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 520,
"aa_ref": "A",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2086,
"cdna_start": 1933,
"cds_end": null,
"cds_length": 1563,
"cds_start": 1501,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000946371.1",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.1501G>T",
"hgvs_p": "p.Ala501Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616430.1",
"strand": false,
"transcript": "ENST00000946371.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 443,
"aa_ref": "A",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4191,
"cdna_start": 1736,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_173654.3",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.1270G>T",
"hgvs_p": "p.Ala424Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_775925.1",
"strand": false,
"transcript": "NM_173654.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 545,
"aa_ref": "A",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4644,
"cdna_start": 2189,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1576,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011533599.2",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.1576G>T",
"hgvs_p": "p.Ala526Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531901.1",
"strand": false,
"transcript": "XM_011533599.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 545,
"aa_ref": "A",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4497,
"cdna_start": 2042,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1576,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011533600.2",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.1576G>T",
"hgvs_p": "p.Ala526Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531902.1",
"strand": false,
"transcript": "XM_011533600.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 545,
"aa_ref": "A",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4409,
"cdna_start": 1954,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1576,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011533602.2",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.1576G>T",
"hgvs_p": "p.Ala526Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531904.1",
"strand": false,
"transcript": "XM_011533602.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 545,
"aa_ref": "A",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4647,
"cdna_start": 2192,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1576,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047448000.1",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.1576G>T",
"hgvs_p": "p.Ala526Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303956.1",
"strand": false,
"transcript": "XM_047448000.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 545,
"aa_ref": "A",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4768,
"cdna_start": 2313,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1576,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047448001.1",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.1576G>T",
"hgvs_p": "p.Ala526Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303957.1",
"strand": false,
"transcript": "XM_047448001.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 544,
"aa_ref": "A",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4641,
"cdna_start": 2186,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1573,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011533603.2",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.1573G>T",
"hgvs_p": "p.Ala525Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531905.1",
"strand": false,
"transcript": "XM_011533603.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 544,
"aa_ref": "A",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4494,
"cdna_start": 2039,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1573,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_017006204.2",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.1573G>T",
"hgvs_p": "p.Ala525Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861693.1",
"strand": false,
"transcript": "XM_017006204.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 544,
"aa_ref": "A",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4795,
"cdna_start": 2340,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1573,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047448002.1",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.1573G>T",
"hgvs_p": "p.Ala525Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303958.1",
"strand": false,
"transcript": "XM_047448002.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 544,
"aa_ref": "A",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4406,
"cdna_start": 1951,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1573,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047448003.1",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.1573G>T",
"hgvs_p": "p.Ala525Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303959.1",
"strand": false,
"transcript": "XM_047448003.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 544,
"aa_ref": "A",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4552,
"cdna_start": 2097,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1573,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047448004.1",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.1573G>T",
"hgvs_p": "p.Ala525Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303960.1",
"strand": false,
"transcript": "XM_047448004.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "A",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4590,
"cdna_start": 2135,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1522,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_005264743.3",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.1522G>T",
"hgvs_p": "p.Ala508Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005264800.1",
"strand": false,
"transcript": "XM_005264743.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "A",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4355,
"cdna_start": 1900,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1522,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017006205.2",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.1522G>T",
"hgvs_p": "p.Ala508Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861694.1",
"strand": false,
"transcript": "XM_017006205.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "A",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4546,
"cdna_start": 2091,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1522,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017006206.2",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.1522G>T",
"hgvs_p": "p.Ala508Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861695.1",
"strand": false,
"transcript": "XM_017006206.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "A",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4609,
"cdna_start": 2154,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1522,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047448005.1",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.1522G>T",
"hgvs_p": "p.Ala508Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303961.1",
"strand": false,
"transcript": "XM_047448005.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "A",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4753,
"cdna_start": 2298,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1522,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_047448006.1",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.1522G>T",
"hgvs_p": "p.Ala508Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303962.1",
"strand": false,
"transcript": "XM_047448006.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 300,
"aa_ref": "A",
"aa_start": 281,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3370,
"cdna_start": 915,
"cds_end": null,
"cds_length": 903,
"cds_start": 841,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_017006207.2",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.841G>T",
"hgvs_p": "p.Ala281Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861696.1",
"strand": false,
"transcript": "XM_017006207.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 252,
"aa_ref": "A",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3240,
"cdna_start": 785,
"cds_end": null,
"cds_length": 759,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017006209.2",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.697G>T",
"hgvs_p": "p.Ala233Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861698.1",
"strand": false,
"transcript": "XM_017006209.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 206,
"aa_ref": "A",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3169,
"cdna_start": 714,
"cds_end": null,
"cds_length": 621,
"cds_start": 559,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047448007.1",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "c.559G>T",
"hgvs_p": "p.Ala187Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303963.1",
"strand": false,
"transcript": "XM_047448007.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000403140.6",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "n.*690G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000384124.2",
"strand": false,
"transcript": "ENST00000403140.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3624,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000496647.5",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "n.1176G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000496647.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4232,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NR_103826.2",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "n.1777G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_103826.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000403140.6",
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"hgvs_c": "n.*690G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000384124.2",
"strand": false,
"transcript": "ENST00000403140.6",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2090510211",
"effect": "missense_variant",
"frequency_reference_population": 6.841733e-7,
"gene_hgnc_id": 28526,
"gene_symbol": "EOGT",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84173e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Inborn genetic diseases",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.168,
"pos": 68977680,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.209,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001278689.2"
}
]
}