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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: 11-66848974-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66848974&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66848974,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000393960.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Glu1154Glu",
"transcript": "NM_001040716.2",
"protein_id": "NP_001035806.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1178,
"cds_start": 3462,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 3751,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": "ENST00000393960.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Glu1154Glu",
"transcript": "ENST00000393960.7",
"protein_id": "ENSP00000377532.1",
"transcript_support_level": 5,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1178,
"cds_start": 3462,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 3751,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": "NM_001040716.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Glu1154Glu",
"transcript": "ENST00000393955.6",
"protein_id": "ENSP00000377527.2",
"transcript_support_level": 1,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1178,
"cds_start": 3462,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 3543,
"cdna_end": null,
"cdna_length": 4004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Glu1154Glu",
"transcript": "ENST00000393958.7",
"protein_id": "ENSP00000377530.2",
"transcript_support_level": 1,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1178,
"cds_start": 3462,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 3563,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Glu1154Glu",
"transcript": "NM_000920.4",
"protein_id": "NP_000911.2",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1178,
"cds_start": 3462,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 3563,
"cdna_end": null,
"cdna_length": 4117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Glu1154Glu",
"transcript": "NM_001439352.1",
"protein_id": "NP_001426281.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1178,
"cds_start": 3462,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 3691,
"cdna_end": null,
"cdna_length": 4245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Glu1154Glu",
"transcript": "NM_001439353.1",
"protein_id": "NP_001426282.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1178,
"cds_start": 3462,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 3524,
"cdna_end": null,
"cdna_length": 4078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Glu1154Glu",
"transcript": "NM_001439355.1",
"protein_id": "NP_001426284.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1178,
"cds_start": 3462,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 4008,
"cdna_end": null,
"cdna_length": 4562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Glu1154Glu",
"transcript": "NM_001439357.1",
"protein_id": "NP_001426286.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1178,
"cds_start": 3462,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 3820,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Glu1154Glu",
"transcript": "NM_001439358.1",
"protein_id": "NP_001426287.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1178,
"cds_start": 3462,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 3727,
"cdna_end": null,
"cdna_length": 4281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Glu1154Glu",
"transcript": "NM_001439359.1",
"protein_id": "NP_001426288.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1178,
"cds_start": 3462,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 3609,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Glu1154Glu",
"transcript": "NM_022172.3",
"protein_id": "NP_071504.2",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1178,
"cds_start": 3462,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 3595,
"cdna_end": null,
"cdna_length": 4149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Glu1154Glu",
"transcript": "ENST00000529047.6",
"protein_id": "ENSP00000435905.2",
"transcript_support_level": 3,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1178,
"cds_start": 3462,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 3691,
"cdna_end": null,
"cdna_length": 4248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Glu1154Glu",
"transcript": "ENST00000651036.1",
"protein_id": "ENSP00000498406.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1178,
"cds_start": 3462,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 4312,
"cdna_end": null,
"cdna_length": 4747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Glu1154Glu",
"transcript": "ENST00000651854.1",
"protein_id": "ENSP00000498994.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1178,
"cds_start": 3462,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 4713,
"cdna_end": null,
"cdna_length": 5137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Glu1154Glu",
"transcript": "ENST00000652125.1",
"protein_id": "ENSP00000498302.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1178,
"cds_start": 3462,
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"cdna_start": 3926,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Glu1154Glu",
"transcript": "XM_005274031.5",
"protein_id": "XP_005274088.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1178,
"cds_start": 3462,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 3549,
"cdna_end": null,
"cdna_length": 4103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Glu1154Glu",
"transcript": "XM_005274032.5",
"protein_id": "XP_005274089.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1178,
"cds_start": 3462,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 4714,
"cdna_end": null,
"cdna_length": 5268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Glu1154Glu",
"transcript": "XM_017017869.2",
"protein_id": "XP_016873358.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 1178,
"cds_start": 3462,
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"cdna_start": 3879,
"cdna_end": null,
"cdna_length": 4433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.2166G>A",
"hgvs_p": "p.Glu722Glu",
"transcript": "XM_011545087.3",
"protein_id": "XP_011543389.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 746,
"cds_start": 2166,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2449,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.1941G>A",
"hgvs_p": "p.Glu647Glu",
"transcript": "XM_006718579.4",
"protein_id": "XP_006718642.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 671,
"cds_start": 1941,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2343,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.1941G>A",
"hgvs_p": "p.Glu647Glu",
"transcript": "XM_047427058.1",
"protein_id": "XP_047283014.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 671,
"cds_start": 1941,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 2879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "n.*1471G>A",
"hgvs_p": null,
"transcript": "ENST00000528224.2",
"protein_id": "ENSP00000498317.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
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"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
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"hgvs_c": "n.*1938G>A",
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"transcript": "ENST00000651469.1",
"protein_id": "ENSP00000498712.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4054,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "n.*1471G>A",
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"transcript": "ENST00000528224.2",
"protein_id": "ENSP00000498317.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "n.*1938G>A",
"hgvs_p": null,
"transcript": "ENST00000651469.1",
"protein_id": "ENSP00000498712.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"dbsnp": "rs373287823",
"frequency_reference_population": 0.000006815357,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000478879,
"gnomad_genomes_af": 0.0000262715,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5199999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.118,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000393960.7",
"gene_symbol": "PC",
"hgnc_id": 8636,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3462G>A",
"hgvs_p": "p.Glu1154Glu"
}
],
"clinvar_disease": "Pyruvate carboxylase deficiency",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Pyruvate carboxylase deficiency",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}