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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: 11-14878277-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=14878277&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 14878277,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024514.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Glu451Lys",
"transcript": "NM_024514.5",
"protein_id": "NP_078790.2",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 501,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334636.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024514.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Glu451Lys",
"transcript": "ENST00000334636.10",
"protein_id": "ENSP00000334592.5",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 501,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024514.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334636.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"hgvs_c": "n.*947G>A",
"hgvs_p": null,
"transcript": "ENST00000530609.5",
"protein_id": "ENSP00000466060.1",
"transcript_support_level": 1,
"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": "ENST00000530609.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"hgvs_c": "n.*459G>A",
"hgvs_p": null,
"transcript": "ENST00000532805.1",
"protein_id": "ENSP00000465097.1",
"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": "ENST00000532805.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"hgvs_c": "n.*711G>A",
"hgvs_p": null,
"transcript": "ENST00000534686.5",
"protein_id": "ENSP00000432087.2",
"transcript_support_level": 1,
"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": "ENST00000534686.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"hgvs_c": "n.*947G>A",
"hgvs_p": null,
"transcript": "ENST00000530609.5",
"protein_id": "ENSP00000466060.1",
"transcript_support_level": 1,
"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": "ENST00000530609.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"hgvs_c": "n.*459G>A",
"hgvs_p": null,
"transcript": "ENST00000532805.1",
"protein_id": "ENSP00000465097.1",
"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": "ENST00000532805.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"hgvs_c": "n.*711G>A",
"hgvs_p": null,
"transcript": "ENST00000534686.5",
"protein_id": "ENSP00000432087.2",
"transcript_support_level": 1,
"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": "ENST00000534686.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"hgvs_c": "c.1306G>A",
"hgvs_p": "p.Glu436Lys",
"transcript": "NM_001400568.1",
"protein_id": "NP_001387497.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 486,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400568.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Glu403Lys",
"transcript": "NM_001400567.1",
"protein_id": "NP_001387496.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 453,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400567.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Glu397Lys",
"transcript": "NM_001377217.1",
"protein_id": "NP_001364146.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 447,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377217.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Glu336Lys",
"transcript": "NM_001377214.1",
"protein_id": "NP_001364143.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 386,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377214.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Glu336Lys",
"transcript": "NM_001377215.1",
"protein_id": "NP_001364144.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 386,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377215.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Glu336Lys",
"transcript": "NM_001377216.1",
"protein_id": "NP_001364145.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 386,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377216.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Glu336Lys",
"transcript": "NM_001377227.1",
"protein_id": "NP_001364156.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 386,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377227.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Glu336Lys",
"transcript": "NM_001400558.1",
"protein_id": "NP_001387487.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 386,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400558.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Glu336Lys",
"transcript": "NM_001400559.1",
"protein_id": "NP_001387488.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 386,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400559.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Glu336Lys",
"transcript": "NM_001400560.1",
"protein_id": "NP_001387489.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 386,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400560.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Glu336Lys",
"transcript": "NM_001400561.1",
"protein_id": "NP_001387490.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 386,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400561.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Glu276Lys",
"transcript": "ENST00000921520.1",
"protein_id": "ENSP00000591579.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 326,
"cds_start": 826,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921520.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Glu240Lys",
"transcript": "ENST00000921519.1",
"protein_id": "ENSP00000591578.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 290,
"cds_start": 718,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921519.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"hgvs_c": "c.652G>A",
"hgvs_p": "p.Glu218Lys",
"transcript": "NM_001400562.1",
"protein_id": "NP_001387491.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 268,
"cds_start": 652,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"hgvs_c": "n.*83G>A",
"hgvs_p": null,
"transcript": "ENST00000525015.1",
"protein_id": "ENSP00000466604.1",
"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": "ENST00000525015.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PDE3B",
"gene_hgnc_id": 8779,
"hgvs_c": "n.3159-7529C>T",
"hgvs_p": null,
"transcript": "NR_190763.1",
"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_190763.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PDE3B",
"gene_hgnc_id": 8779,
"hgvs_c": "n.2910-7529C>T",
"hgvs_p": null,
"transcript": "NR_190764.1",
"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_190764.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PDE3B",
"gene_hgnc_id": 8779,
"hgvs_c": "n.3159-7529C>T",
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"transcript": "NR_190765.1",
"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_190765.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
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"gene_symbol": "PDE3B",
"gene_hgnc_id": 8779,
"hgvs_c": "n.3245-7533C>T",
"hgvs_p": null,
"transcript": "NR_190766.1",
"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_190766.1"
}
],
"gene_symbol": "CYP2R1",
"gene_hgnc_id": 20580,
"dbsnp": "rs782741911",
"frequency_reference_population": 0.00003782045,
"hom_count_reference_population": 0,
"allele_count_reference_population": 61,
"gnomad_exomes_af": 0.0000397052,
"gnomad_genomes_af": 0.0000197215,
"gnomad_exomes_ac": 58,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9840604066848755,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.6,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6761,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.06,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_024514.5",
"gene_symbol": "CYP2R1",
"hgnc_id": 20580,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Glu451Lys"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001429699.1",
"gene_symbol": "PDE3B",
"hgnc_id": 8779,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2886+16911C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}