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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: 12-112907097-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=112907097&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 112907097,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001032409.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Phe",
"transcript": "NM_016816.4",
"protein_id": "NP_058132.2",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 400,
"cds_start": 58,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000202917.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016816.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Phe",
"transcript": "ENST00000202917.10",
"protein_id": "ENSP00000202917.5",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 400,
"cds_start": 58,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016816.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000202917.10"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Phe",
"transcript": "ENST00000445409.7",
"protein_id": "ENSP00000388001.2",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 414,
"cds_start": 58,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445409.7"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Phe",
"transcript": "ENST00000540589.3",
"protein_id": "ENSP00000474083.2",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 403,
"cds_start": 58,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540589.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Phe",
"transcript": "ENST00000452357.7",
"protein_id": "ENSP00000415721.2",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 364,
"cds_start": 58,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452357.7"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Phe",
"transcript": "ENST00000552526.2",
"protein_id": "ENSP00000475139.2",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 361,
"cds_start": 58,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552526.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Phe",
"transcript": "ENST00000551241.6",
"protein_id": "ENSP00000448790.1",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 360,
"cds_start": 58,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551241.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Phe",
"transcript": "NM_001032409.3",
"protein_id": "NP_001027581.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 414,
"cds_start": 58,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001032409.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Phe",
"transcript": "ENST00000679494.1",
"protein_id": "ENSP00000505090.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 408,
"cds_start": 58,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679494.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Phe",
"transcript": "ENST00000679987.1",
"protein_id": "ENSP00000504970.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 407,
"cds_start": 58,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679987.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Phe",
"transcript": "NM_001406020.1",
"protein_id": "NP_001392949.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 406,
"cds_start": 58,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406020.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Phe",
"transcript": "ENST00000679467.1",
"protein_id": "ENSP00000506593.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 405,
"cds_start": 58,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679467.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Phe",
"transcript": "ENST00000680189.1",
"protein_id": "ENSP00000505572.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 400,
"cds_start": 58,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680189.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Phe",
"transcript": "NM_001406021.1",
"protein_id": "NP_001392950.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 392,
"cds_start": 58,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406021.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Phe",
"transcript": "ENST00000681700.1",
"protein_id": "ENSP00000506580.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 392,
"cds_start": 58,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681700.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Phe",
"transcript": "NM_001406022.1",
"protein_id": "NP_001392951.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 384,
"cds_start": 58,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406022.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Phe",
"transcript": "ENST00000553152.2",
"protein_id": "ENSP00000449053.2",
"transcript_support_level": 3,
"aa_start": 20,
"aa_end": null,
"aa_length": 384,
"cds_start": 58,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553152.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Phe",
"transcript": "NM_001406023.1",
"protein_id": "NP_001392952.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 376,
"cds_start": 58,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406023.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Phe",
"transcript": "ENST00000681228.1",
"protein_id": "ENSP00000505703.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 371,
"cds_start": 58,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681228.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Phe",
"transcript": "NM_002534.4",
"protein_id": "NP_002525.2",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 364,
"cds_start": 58,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002534.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Phe",
"transcript": "NM_001320151.2",
"protein_id": "NP_001307080.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 360,
"cds_start": 58,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320151.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Phe",
"transcript": "NM_001406024.1",
"protein_id": "NP_001392953.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 356,
"cds_start": 58,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"protein_coding": false,
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{
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{
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"exon_count": 5,
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"biotype": "pseudogene",
"feature": "NR_175989.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 6,
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"gene_symbol": "OAS1",
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{
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"exon_count": 7,
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"gene_symbol": "OAS1",
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"feature": "NR_175991.1"
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{
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"non_coding_transcript_exon_variant"
],
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"exon_count": 6,
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"feature": "NR_175992.1"
},
{
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "OAS1",
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"transcript": "NR_175993.1",
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"biotype": "pseudogene",
"feature": "NR_175993.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 4,
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"gene_symbol": "OAS1",
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"hgvs_c": "n.-37C>T",
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"transcript": "ENST00000681436.1",
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"biotype": "retained_intron",
"feature": "ENST00000681436.1"
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],
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"dbsnp": "rs377027609",
"frequency_reference_population": 0.000053899737,
"hom_count_reference_population": 0,
"allele_count_reference_population": 87,
"gnomad_exomes_af": 0.000058144,
"gnomad_genomes_af": 0.0000131389,
"gnomad_exomes_ac": 85,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5310639142990112,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.27,
"revel_prediction": "Benign",
"alphamissense_score": 0.8491,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.134,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001032409.3",
"gene_symbol": "OAS1",
"hgnc_id": 8086,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Leu20Phe"
}
],
"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
}