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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: 3-68977704-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=68977704&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 68977704,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001278689.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Glu500Lys",
"transcript": "NM_001278689.2",
"protein_id": "NP_001265618.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 527,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000383701.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278689.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Glu500Lys",
"transcript": "ENST00000383701.8",
"protein_id": "ENSP00000373206.3",
"transcript_support_level": 1,
"aa_start": 500,
"aa_end": null,
"aa_length": 527,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001278689.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383701.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Glu416Lys",
"transcript": "ENST00000295571.9",
"protein_id": "ENSP00000295571.5",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 443,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295571.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Glu500Lys",
"transcript": "ENST00000894422.1",
"protein_id": "ENSP00000564481.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 527,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894422.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.1477G>A",
"hgvs_p": "p.Glu493Lys",
"transcript": "ENST00000946371.1",
"protein_id": "ENSP00000616430.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 520,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946371.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Glu416Lys",
"transcript": "NM_173654.3",
"protein_id": "NP_775925.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 443,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173654.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Glu518Lys",
"transcript": "XM_011533599.2",
"protein_id": "XP_011531901.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 545,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533599.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Glu518Lys",
"transcript": "XM_011533600.2",
"protein_id": "XP_011531902.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 545,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533600.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Glu518Lys",
"transcript": "XM_011533602.2",
"protein_id": "XP_011531904.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 545,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533602.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Glu518Lys",
"transcript": "XM_047448000.1",
"protein_id": "XP_047303956.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 545,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448000.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.1552G>A",
"hgvs_p": "p.Glu518Lys",
"transcript": "XM_047448001.1",
"protein_id": "XP_047303957.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 545,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448001.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.1549G>A",
"hgvs_p": "p.Glu517Lys",
"transcript": "XM_011533603.2",
"protein_id": "XP_011531905.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 544,
"cds_start": 1549,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533603.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.1549G>A",
"hgvs_p": "p.Glu517Lys",
"transcript": "XM_017006204.2",
"protein_id": "XP_016861693.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 544,
"cds_start": 1549,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006204.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.1549G>A",
"hgvs_p": "p.Glu517Lys",
"transcript": "XM_047448002.1",
"protein_id": "XP_047303958.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 544,
"cds_start": 1549,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448002.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.1549G>A",
"hgvs_p": "p.Glu517Lys",
"transcript": "XM_047448003.1",
"protein_id": "XP_047303959.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 544,
"cds_start": 1549,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448003.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.1549G>A",
"hgvs_p": "p.Glu517Lys",
"transcript": "XM_047448004.1",
"protein_id": "XP_047303960.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 544,
"cds_start": 1549,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448004.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Glu500Lys",
"transcript": "XM_005264743.3",
"protein_id": "XP_005264800.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 527,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264743.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Glu500Lys",
"transcript": "XM_017006205.2",
"protein_id": "XP_016861694.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 527,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006205.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Glu500Lys",
"transcript": "XM_017006206.2",
"protein_id": "XP_016861695.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 527,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006206.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Glu500Lys",
"transcript": "XM_047448005.1",
"protein_id": "XP_047303961.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 527,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448005.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Glu500Lys",
"transcript": "XM_047448006.1",
"protein_id": "XP_047303962.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 527,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448006.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.817G>A",
"hgvs_p": "p.Glu273Lys",
"transcript": "XM_017006207.2",
"protein_id": "XP_016861696.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 300,
"cds_start": 817,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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},
{
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"strand": false,
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],
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},
{
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],
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"exon_count": 9,
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"gene_symbol": "EOGT",
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"hgvs_c": "c.535G>A",
"hgvs_p": "p.Glu179Lys",
"transcript": "XM_047448007.1",
"protein_id": "XP_047303963.1",
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"biotype": "protein_coding",
"feature": "XM_047448007.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 16,
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"gene_symbol": "EOGT",
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"hgvs_c": "n.*666G>A",
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"transcript": "ENST00000403140.6",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000403140.6"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "EOGT",
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"hgvs_c": "n.1152G>A",
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"transcript": "ENST00000496647.5",
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"biotype": "retained_intron",
"feature": "ENST00000496647.5"
},
{
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"canonical": false,
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"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 16,
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"gene_symbol": "EOGT",
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"hgvs_c": "n.1753G>A",
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"transcript": "NR_103826.2",
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"biotype": "pseudogene",
"feature": "NR_103826.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 16,
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"gene_symbol": "EOGT",
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"hgvs_c": "n.*666G>A",
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"transcript": "ENST00000403140.6",
"protein_id": "ENSP00000384124.2",
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"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000403140.6"
}
],
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"dbsnp": "rs947918120",
"frequency_reference_population": 0.000004105017,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410502,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7789080142974854,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.371,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6973,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.896,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001278689.2",
"gene_symbol": "EOGT",
"hgnc_id": 28526,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Glu500Lys"
}
],
"clinvar_disease": "EOGT-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "EOGT-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}