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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: 19-40800589-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40800589&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 40800589,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_053046.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN2",
"gene_hgnc_id": 14660,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Gln6Arg",
"transcript": "NM_080732.4",
"protein_id": "NP_542770.2",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 407,
"cds_start": 17,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000303961.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080732.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN2",
"gene_hgnc_id": 14660,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Gln6Arg",
"transcript": "ENST00000303961.9",
"protein_id": "ENSP00000307080.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 407,
"cds_start": 17,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_080732.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303961.9"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN2",
"gene_hgnc_id": 14660,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Gln6Arg",
"transcript": "ENST00000406058.6",
"protein_id": "ENSP00000385253.1",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 407,
"cds_start": 17,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406058.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN2",
"gene_hgnc_id": 14660,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Gln6Arg",
"transcript": "ENST00000593726.5",
"protein_id": "ENSP00000469686.1",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 407,
"cds_start": 17,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593726.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB4B-EGLN2",
"gene_hgnc_id": 44465,
"hgvs_c": "n.*266A>G",
"hgvs_p": null,
"transcript": "ENST00000594136.2",
"protein_id": "ENSP00000469872.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000594136.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB4B-EGLN2",
"gene_hgnc_id": 44465,
"hgvs_c": "n.*266A>G",
"hgvs_p": null,
"transcript": "ENST00000594136.2",
"protein_id": "ENSP00000469872.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000594136.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN2",
"gene_hgnc_id": 14660,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Gln6Arg",
"transcript": "ENST00000863135.1",
"protein_id": "ENSP00000533194.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 409,
"cds_start": 17,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863135.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN2",
"gene_hgnc_id": 14660,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Gln6Arg",
"transcript": "NM_053046.4",
"protein_id": "NP_444274.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 407,
"cds_start": 17,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_053046.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN2",
"gene_hgnc_id": 14660,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Gln6Arg",
"transcript": "ENST00000863136.1",
"protein_id": "ENSP00000533195.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 407,
"cds_start": 17,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863136.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN2",
"gene_hgnc_id": 14660,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Gln6Arg",
"transcript": "ENST00000863137.1",
"protein_id": "ENSP00000533196.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 407,
"cds_start": 17,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863137.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN2",
"gene_hgnc_id": 14660,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Gln6Arg",
"transcript": "ENST00000936251.1",
"protein_id": "ENSP00000606310.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 407,
"cds_start": 17,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936251.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN2",
"gene_hgnc_id": 14660,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Gln6Arg",
"transcript": "ENST00000936252.1",
"protein_id": "ENSP00000606311.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 407,
"cds_start": 17,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936252.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN2",
"gene_hgnc_id": 14660,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Gln6Arg",
"transcript": "ENST00000962909.1",
"protein_id": "ENSP00000632968.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 407,
"cds_start": 17,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962909.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN2",
"gene_hgnc_id": 14660,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Gln6Arg",
"transcript": "ENST00000962911.1",
"protein_id": "ENSP00000632970.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 407,
"cds_start": 17,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962911.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN2",
"gene_hgnc_id": 14660,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Gln6Arg",
"transcript": "ENST00000863134.1",
"protein_id": "ENSP00000533193.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 405,
"cds_start": 17,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863134.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN2",
"gene_hgnc_id": 14660,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Gln6Arg",
"transcript": "ENST00000962910.1",
"protein_id": "ENSP00000632969.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 400,
"cds_start": 17,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962910.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN2",
"gene_hgnc_id": 14660,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Gln6Arg",
"transcript": "ENST00000593972.1",
"protein_id": "ENSP00000471546.1",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 138,
"cds_start": 17,
"cds_end": null,
"cds_length": 419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593972.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN2",
"gene_hgnc_id": 14660,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Gln6Arg",
"transcript": "ENST00000598654.1",
"protein_id": "ENSP00000471568.1",
"transcript_support_level": 3,
"aa_start": 6,
"aa_end": null,
"aa_length": 100,
"cds_start": 17,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598654.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN2",
"gene_hgnc_id": 14660,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Gln6Arg",
"transcript": "ENST00000601733.1",
"protein_id": "ENSP00000469323.1",
"transcript_support_level": 4,
"aa_start": 6,
"aa_end": null,
"aa_length": 93,
"cds_start": 17,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601733.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN2",
"gene_hgnc_id": 14660,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Gln6Arg",
"transcript": "ENST00000594380.1",
"protein_id": "ENSP00000470968.1",
"transcript_support_level": 4,
"aa_start": 6,
"aa_end": null,
"aa_length": 86,
"cds_start": 17,
"cds_end": null,
"cds_length": 263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594380.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN2",
"gene_hgnc_id": 14660,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Gln6Arg",
"transcript": "ENST00000593525.1",
"protein_id": "ENSP00000469272.1",
"transcript_support_level": 3,
"aa_start": 6,
"aa_end": null,
"aa_length": 76,
"cds_start": 17,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593525.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN2",
"gene_hgnc_id": 14660,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Gln6Arg",
"transcript": "ENST00000593397.1",
"protein_id": "ENSP00000472146.1",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 71,
"cds_start": 17,
"cds_end": null,
"cds_length": 217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593397.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGLN2",
"gene_hgnc_id": 14660,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Gln6Arg",
"transcript": "ENST00000596517.1",
"protein_id": "ENSP00000472870.1",
"transcript_support_level": 4,
"aa_start": 6,
"aa_end": null,
"aa_length": 66,
"cds_start": 17,
"cds_end": null,
"cds_length": 202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596517.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB4B-EGLN2",
"gene_hgnc_id": 44465,
"hgvs_c": "n.1065A>G",
"hgvs_p": null,
"transcript": "NR_037791.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_037791.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB4B-EGLN2",
"gene_hgnc_id": 44465,
"hgvs_c": "n.*193A>G",
"hgvs_p": null,
"transcript": "ENST00000596216.2",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000596216.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB4B-EGLN2",
"gene_hgnc_id": 44465,
"hgvs_c": "n.*146A>G",
"hgvs_p": null,
"transcript": "ENST00000601949.5",
"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": "pseudogene",
"feature": "ENST00000601949.5"
}
],
"gene_symbol": "EGLN2",
"gene_hgnc_id": 14660,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17484351992607117,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.13,
"revel_prediction": "Benign",
"alphamissense_score": 0.0935,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.956,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_053046.4",
"gene_symbol": "EGLN2",
"hgnc_id": 14660,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Gln6Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000594136.2",
"gene_symbol": "RAB4B-EGLN2",
"hgnc_id": 44465,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*266A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}