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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: 3-9869969-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9869969&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9869969,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001199623.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.467T>C",
"hgvs_p": "p.Ile156Thr",
"transcript": "NM_001321142.2",
"protein_id": "NP_001308071.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 238,
"cds_start": 467,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336832.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321142.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.467T>C",
"hgvs_p": "p.Ile156Thr",
"transcript": "ENST00000336832.7",
"protein_id": "ENSP00000338642.2",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 238,
"cds_start": 467,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001321142.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336832.7"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.506T>C",
"hgvs_p": "p.Ile169Thr",
"transcript": "ENST00000383817.5",
"protein_id": "ENSP00000373328.2",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 251,
"cds_start": 506,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383817.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Ile82Thr",
"transcript": "ENST00000455015.6",
"protein_id": "ENSP00000392975.1",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 164,
"cds_start": 245,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455015.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.208-2673T>C",
"hgvs_p": null,
"transcript": "ENST00000443115.1",
"protein_id": "ENSP00000411356.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 133,
"cds_start": null,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443115.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.506T>C",
"hgvs_p": "p.Ile169Thr",
"transcript": "NM_001199623.2",
"protein_id": "NP_001186552.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 251,
"cds_start": 506,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199623.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Ile166Thr",
"transcript": "NM_001199551.2",
"protein_id": "NP_001186480.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 248,
"cds_start": 497,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199551.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Ile166Thr",
"transcript": "ENST00000430427.6",
"protein_id": "ENSP00000408631.1",
"transcript_support_level": 3,
"aa_start": 166,
"aa_end": null,
"aa_length": 248,
"cds_start": 497,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430427.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Ile166Thr",
"transcript": "ENST00000618572.4",
"protein_id": "ENSP00000483641.1",
"transcript_support_level": 5,
"aa_start": 166,
"aa_end": null,
"aa_length": 248,
"cds_start": 497,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618572.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Ile166Thr",
"transcript": "ENST00000949780.1",
"protein_id": "ENSP00000619839.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 248,
"cds_start": 497,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949780.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Ile166Thr",
"transcript": "ENST00000949784.1",
"protein_id": "ENSP00000619843.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 248,
"cds_start": 497,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949784.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.467T>C",
"hgvs_p": "p.Ile156Thr",
"transcript": "NM_001199552.2",
"protein_id": "NP_001186481.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 238,
"cds_start": 467,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199552.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.467T>C",
"hgvs_p": "p.Ile156Thr",
"transcript": "NM_001378491.1",
"protein_id": "NP_001365420.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 238,
"cds_start": 467,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378491.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.467T>C",
"hgvs_p": "p.Ile156Thr",
"transcript": "NM_022094.3",
"protein_id": "NP_071377.2",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 238,
"cds_start": 467,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022094.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.467T>C",
"hgvs_p": "p.Ile156Thr",
"transcript": "ENST00000675828.1",
"protein_id": "ENSP00000502377.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 238,
"cds_start": 467,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675828.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.467T>C",
"hgvs_p": "p.Ile156Thr",
"transcript": "ENST00000679265.1",
"protein_id": "ENSP00000504614.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 238,
"cds_start": 467,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679265.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.467T>C",
"hgvs_p": "p.Ile156Thr",
"transcript": "ENST00000879588.1",
"protein_id": "ENSP00000549647.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 238,
"cds_start": 467,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879588.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.467T>C",
"hgvs_p": "p.Ile156Thr",
"transcript": "ENST00000949781.1",
"protein_id": "ENSP00000619840.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 238,
"cds_start": 467,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949781.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.467T>C",
"hgvs_p": "p.Ile156Thr",
"transcript": "ENST00000949782.1",
"protein_id": "ENSP00000619841.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 238,
"cds_start": 467,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949782.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.467T>C",
"hgvs_p": "p.Ile156Thr",
"transcript": "ENST00000949783.1",
"protein_id": "ENSP00000619842.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 238,
"cds_start": 467,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949783.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.467T>C",
"hgvs_p": "p.Ile156Thr",
"transcript": "ENST00000949785.1",
"protein_id": "ENSP00000619844.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 238,
"cds_start": 467,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949785.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Ile82Thr",
"transcript": "NM_001321143.2",
"protein_id": "NP_001308072.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 164,
"cds_start": 245,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321143.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
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"hgvs_c": "c.245T>C",
"hgvs_p": "p.Ile82Thr",
"transcript": "NM_001321144.2",
"protein_id": "NP_001308073.1",
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"aa_start": 82,
"aa_end": null,
"aa_length": 164,
"cds_start": 245,
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"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321144.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.245T>C",
"hgvs_p": "p.Ile82Thr",
"transcript": "ENST00000423850.5",
"protein_id": "ENSP00000400649.1",
"transcript_support_level": 2,
"aa_start": 82,
"aa_end": null,
"aa_length": 164,
"cds_start": 245,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423850.5"
},
{
"aa_ref": "I",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.467T>C",
"hgvs_p": "p.Ile156Thr",
"transcript": "XM_047448685.1",
"protein_id": "XP_047304641.1",
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"aa_start": 156,
"aa_end": null,
"aa_length": 238,
"cds_start": 467,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448685.1"
},
{
"aa_ref": "I",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
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"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
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"hgvs_c": "c.245T>C",
"hgvs_p": "p.Ile82Thr",
"transcript": "XM_047448686.1",
"protein_id": "XP_047304642.1",
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"aa_start": 82,
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"aa_length": 164,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448686.1"
},
{
"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": 2,
"intron_rank": 1,
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"gene_symbol": "ENSG00000308530",
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"hgvs_c": "n.322-174A>G",
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"transcript": "ENST00000834810.1",
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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,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000834810.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "ENSG00000308530",
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"hgvs_c": "n.224-290A>G",
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"transcript": "ENST00000834811.1",
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"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": "ENST00000834811.1"
}
],
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"dbsnp": "rs201709635",
"frequency_reference_population": 0.000050798655,
"hom_count_reference_population": 0,
"allele_count_reference_population": 82,
"gnomad_exomes_af": 0.0000355705,
"gnomad_genomes_af": 0.000196941,
"gnomad_exomes_ac": 52,
"gnomad_genomes_ac": 30,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.707771360874176,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.756,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1253,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.947,
"phylop100way_prediction": "Pathogenic",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001199623.2",
"gene_symbol": "CIDEC",
"hgnc_id": 24229,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.506T>C",
"hgvs_p": "p.Ile169Thr"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000834810.1",
"gene_symbol": "ENSG00000308530",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.322-174A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}