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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: 2-10440774-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=10440774&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 10440774,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002539.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"transcript": "NM_002539.3",
"protein_id": "NP_002530.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 461,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000234111.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002539.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"transcript": "ENST00000234111.9",
"protein_id": "ENSP00000234111.4",
"transcript_support_level": 1,
"aa_start": 446,
"aa_end": null,
"aa_length": 461,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002539.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000234111.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"transcript": "NM_001287189.2",
"protein_id": "NP_001274118.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 461,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287189.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"transcript": "NM_001287190.2",
"protein_id": "NP_001274119.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 461,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287190.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"transcript": "ENST00000405333.5",
"protein_id": "ENSP00000385333.1",
"transcript_support_level": 2,
"aa_start": 446,
"aa_end": null,
"aa_length": 461,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405333.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"transcript": "ENST00000443218.2",
"protein_id": "ENSP00000390691.2",
"transcript_support_level": 2,
"aa_start": 446,
"aa_end": null,
"aa_length": 461,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443218.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"transcript": "ENST00000699835.1",
"protein_id": "ENSP00000514633.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 461,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699835.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"transcript": "ENST00000699836.1",
"protein_id": "ENSP00000514634.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 461,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699836.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"transcript": "ENST00000887501.1",
"protein_id": "ENSP00000557560.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 461,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887501.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"transcript": "ENST00000887502.1",
"protein_id": "ENSP00000557561.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 461,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887502.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"transcript": "ENST00000887503.1",
"protein_id": "ENSP00000557562.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 461,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887503.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"transcript": "ENST00000887504.1",
"protein_id": "ENSP00000557563.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 461,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887504.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"transcript": "ENST00000887505.1",
"protein_id": "ENSP00000557564.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 461,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887505.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"transcript": "ENST00000887506.1",
"protein_id": "ENSP00000557565.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 461,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887506.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"transcript": "ENST00000887507.1",
"protein_id": "ENSP00000557566.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 461,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887507.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"transcript": "ENST00000926727.1",
"protein_id": "ENSP00000596786.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 461,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926727.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"transcript": "ENST00000926729.1",
"protein_id": "ENSP00000596788.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 461,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926729.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"transcript": "ENST00000953421.1",
"protein_id": "ENSP00000623480.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 461,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953421.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"transcript": "ENST00000953422.1",
"protein_id": "ENSP00000623481.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 461,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953422.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"transcript": "ENST00000953423.1",
"protein_id": "ENSP00000623482.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 461,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953423.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg",
"transcript": "ENST00000953424.1",
"protein_id": "ENSP00000623483.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 461,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953424.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "c.1327G>A",
"hgvs_p": "p.Gly443Arg",
"transcript": "ENST00000887508.1",
"protein_id": "ENSP00000557567.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 458,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887508.1"
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
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"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODC1",
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"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Gly388Arg",
"transcript": "ENST00000926728.1",
"protein_id": "ENSP00000596787.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 403,
"cds_start": 1162,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926728.1"
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Gly317Arg",
"transcript": "NM_001287188.2",
"protein_id": "NP_001274117.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 332,
"cds_start": 949,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287188.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "n.*1104G>A",
"hgvs_p": null,
"transcript": "ENST00000446285.6",
"protein_id": "ENSP00000514632.1",
"transcript_support_level": 5,
"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": "ENST00000446285.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODC1",
"gene_hgnc_id": 8109,
"hgvs_c": "n.*1104G>A",
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"transcript": "ENST00000446285.6",
"protein_id": "ENSP00000514632.1",
"transcript_support_level": 5,
"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": "ENST00000446285.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "ENSG00000298698",
"gene_hgnc_id": null,
"hgvs_c": "n.252-2908C>T",
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"transcript": "ENST00000757451.1",
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"aa_length": null,
"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": "pseudogene",
"feature": "ENST00000757451.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "ENSG00000298698",
"gene_hgnc_id": null,
"hgvs_c": "n.133-668C>T",
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"transcript": "ENST00000757452.1",
"protein_id": null,
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"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": "ENST00000757452.1"
}
],
"gene_symbol": "ODC1",
"gene_hgnc_id": 8109,
"dbsnp": "rs139964676",
"frequency_reference_population": 0.00002973904,
"hom_count_reference_population": 0,
"allele_count_reference_population": 48,
"gnomad_exomes_af": 0.0000314666,
"gnomad_genomes_af": 0.000013143,
"gnomad_exomes_ac": 46,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12664932012557983,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.102,
"revel_prediction": "Benign",
"alphamissense_score": 0.1708,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.325,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_002539.3",
"gene_symbol": "ODC1",
"hgnc_id": 8109,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1336G>A",
"hgvs_p": "p.Gly446Arg"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000757451.1",
"gene_symbol": "ENSG00000298698",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.252-2908C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}