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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: 11-66851940-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66851940&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66851940,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000393960.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.1832C>T",
"hgvs_p": "p.Thr611Met",
"transcript": "NM_001040716.2",
"protein_id": "NP_001035806.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1178,
"cds_start": 1832,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 2121,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": "ENST00000393960.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.1832C>T",
"hgvs_p": "p.Thr611Met",
"transcript": "ENST00000393960.7",
"protein_id": "ENSP00000377532.1",
"transcript_support_level": 5,
"aa_start": 611,
"aa_end": null,
"aa_length": 1178,
"cds_start": 1832,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 2121,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": "NM_001040716.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.1832C>T",
"hgvs_p": "p.Thr611Met",
"transcript": "ENST00000393955.6",
"protein_id": "ENSP00000377527.2",
"transcript_support_level": 1,
"aa_start": 611,
"aa_end": null,
"aa_length": 1178,
"cds_start": 1832,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 1913,
"cdna_end": null,
"cdna_length": 4004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.1832C>T",
"hgvs_p": "p.Thr611Met",
"transcript": "ENST00000393958.7",
"protein_id": "ENSP00000377530.2",
"transcript_support_level": 1,
"aa_start": 611,
"aa_end": null,
"aa_length": 1178,
"cds_start": 1832,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 1933,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "n.290-1875C>T",
"hgvs_p": null,
"transcript": "ENST00000525476.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.1832C>T",
"hgvs_p": "p.Thr611Met",
"transcript": "NM_000920.4",
"protein_id": "NP_000911.2",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1178,
"cds_start": 1832,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 1933,
"cdna_end": null,
"cdna_length": 4117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.1832C>T",
"hgvs_p": "p.Thr611Met",
"transcript": "NM_001439352.1",
"protein_id": "NP_001426281.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1178,
"cds_start": 1832,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 2061,
"cdna_end": null,
"cdna_length": 4245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.1832C>T",
"hgvs_p": "p.Thr611Met",
"transcript": "NM_001439353.1",
"protein_id": "NP_001426282.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1178,
"cds_start": 1832,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 4078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.1832C>T",
"hgvs_p": "p.Thr611Met",
"transcript": "NM_001439355.1",
"protein_id": "NP_001426284.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1178,
"cds_start": 1832,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 2378,
"cdna_end": null,
"cdna_length": 4562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.1832C>T",
"hgvs_p": "p.Thr611Met",
"transcript": "NM_001439357.1",
"protein_id": "NP_001426286.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1178,
"cds_start": 1832,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.1832C>T",
"hgvs_p": "p.Thr611Met",
"transcript": "NM_001439358.1",
"protein_id": "NP_001426287.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1178,
"cds_start": 1832,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 2097,
"cdna_end": null,
"cdna_length": 4281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.1832C>T",
"hgvs_p": "p.Thr611Met",
"transcript": "NM_001439359.1",
"protein_id": "NP_001426288.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1178,
"cds_start": 1832,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 1979,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.1832C>T",
"hgvs_p": "p.Thr611Met",
"transcript": "NM_022172.3",
"protein_id": "NP_071504.2",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1178,
"cds_start": 1832,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 1965,
"cdna_end": null,
"cdna_length": 4149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.1832C>T",
"hgvs_p": "p.Thr611Met",
"transcript": "ENST00000529047.6",
"protein_id": "ENSP00000435905.2",
"transcript_support_level": 3,
"aa_start": 611,
"aa_end": null,
"aa_length": 1178,
"cds_start": 1832,
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"cdna_start": 2061,
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"cdna_length": 4248,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.1832C>T",
"hgvs_p": "p.Thr611Met",
"transcript": "ENST00000651036.1",
"protein_id": "ENSP00000498406.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1178,
"cds_start": 1832,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 2682,
"cdna_end": null,
"cdna_length": 4747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.1832C>T",
"hgvs_p": "p.Thr611Met",
"transcript": "ENST00000651854.1",
"protein_id": "ENSP00000498994.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
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"cdna_start": 3083,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.1832C>T",
"hgvs_p": "p.Thr611Met",
"transcript": "ENST00000652125.1",
"protein_id": "ENSP00000498302.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1178,
"cds_start": 1832,
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"cdna_start": 2296,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.1832C>T",
"hgvs_p": "p.Thr611Met",
"transcript": "XM_005274031.5",
"protein_id": "XP_005274088.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1178,
"cds_start": 1832,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 1919,
"cdna_end": null,
"cdna_length": 4103,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.1832C>T",
"hgvs_p": "p.Thr611Met",
"transcript": "XM_005274032.5",
"protein_id": "XP_005274089.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1178,
"cds_start": 1832,
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"cdna_start": 3084,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.1832C>T",
"hgvs_p": "p.Thr611Met",
"transcript": "XM_017017869.2",
"protein_id": "XP_016873358.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 1178,
"cds_start": 1832,
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"cdna_start": 2249,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.536C>T",
"hgvs_p": "p.Thr179Met",
"transcript": "XM_011545087.3",
"protein_id": "XP_011543389.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 746,
"cds_start": 536,
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"cds_length": 2241,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "XM_006718579.4",
"protein_id": "XP_006718642.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 671,
"cds_start": 311,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Met",
"transcript": "XM_047427058.1",
"protein_id": "XP_047283014.1",
"transcript_support_level": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 22,
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"transcript": "ENST00000651469.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 22,
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"gene_symbol": "PC",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 14,
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"gene_symbol": "PC",
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"hgvs_c": "n.1826-89C>T",
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"transcript": "ENST00000528224.2",
"protein_id": "ENSP00000498317.1",
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}
],
"gene_symbol": "PC",
"gene_hgnc_id": 8636,
"dbsnp": "rs757071897",
"frequency_reference_population": 0.0000054733564,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000547336,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9773534536361694,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.926,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9603,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.381,
"phylop100way_prediction": "Uncertain_significance",
"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": 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": "ENST00000393960.7",
"gene_symbol": "PC",
"hgnc_id": 8636,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1832C>T",
"hgvs_p": "p.Thr611Met"
}
],
"clinvar_disease": "Pyruvate carboxylase deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Pyruvate carboxylase deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}