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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: 12-112919432-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=112919432&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 112919432,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016816.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.1082G>C",
"hgvs_p": "p.Arg361Thr",
"transcript": "NM_016816.4",
"protein_id": "NP_058132.2",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 400,
"cds_start": 1082,
"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": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.1082G>C",
"hgvs_p": "p.Arg361Thr",
"transcript": "ENST00000202917.10",
"protein_id": "ENSP00000202917.5",
"transcript_support_level": 1,
"aa_start": 361,
"aa_end": null,
"aa_length": 400,
"cds_start": 1082,
"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": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.1082G>C",
"hgvs_p": "p.Arg361Thr",
"transcript": "ENST00000552526.2",
"protein_id": "ENSP00000475139.2",
"transcript_support_level": 1,
"aa_start": 361,
"aa_end": null,
"aa_length": 361,
"cds_start": 1082,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.*1675G>C",
"hgvs_p": null,
"transcript": "ENST00000452357.7",
"protein_id": "ENSP00000415721.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 364,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.1039-55G>C",
"hgvs_p": null,
"transcript": "ENST00000445409.7",
"protein_id": "ENSP00000388001.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.1039-55G>C",
"hgvs_p": null,
"transcript": "ENST00000540589.3",
"protein_id": "ENSP00000474083.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.1038+1732G>C",
"hgvs_p": null,
"transcript": "ENST00000551241.6",
"protein_id": "ENSP00000448790.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
"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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Gly310Arg",
"transcript": "ENST00000679494.1",
"protein_id": "ENSP00000505090.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 408,
"cds_start": 928,
"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": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.1103G>C",
"hgvs_p": "p.Arg368Thr",
"transcript": "ENST00000679987.1",
"protein_id": "ENSP00000504970.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 407,
"cds_start": 1103,
"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": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.1097G>C",
"hgvs_p": "p.Arg366Thr",
"transcript": "ENST00000679467.1",
"protein_id": "ENSP00000506593.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 405,
"cds_start": 1097,
"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": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.1082G>C",
"hgvs_p": "p.Arg361Thr",
"transcript": "ENST00000680189.1",
"protein_id": "ENSP00000505572.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 400,
"cds_start": 1082,
"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": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.1058G>C",
"hgvs_p": "p.Arg353Thr",
"transcript": "NM_001406021.1",
"protein_id": "NP_001392950.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 392,
"cds_start": 1058,
"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": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.1058G>C",
"hgvs_p": "p.Arg353Thr",
"transcript": "ENST00000681700.1",
"protein_id": "ENSP00000506580.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 392,
"cds_start": 1058,
"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": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.995G>C",
"hgvs_p": "p.Arg332Thr",
"transcript": "ENST00000681228.1",
"protein_id": "ENSP00000505703.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 371,
"cds_start": 995,
"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": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.608G>C",
"hgvs_p": "p.Arg203Thr",
"transcript": "NM_001406027.1",
"protein_id": "NP_001392956.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 242,
"cds_start": 608,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406027.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.608G>C",
"hgvs_p": "p.Arg203Thr",
"transcript": "ENST00000680455.1",
"protein_id": "ENSP00000505165.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 242,
"cds_start": 608,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680455.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.*719G>C",
"hgvs_p": null,
"transcript": "NM_001406022.1",
"protein_id": "NP_001392951.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 384,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.*719G>C",
"hgvs_p": null,
"transcript": "ENST00000553152.2",
"protein_id": "ENSP00000449053.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 384,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.*719G>C",
"hgvs_p": null,
"transcript": "NM_001406023.1",
"protein_id": "NP_001392952.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.*1675G>C",
"hgvs_p": null,
"transcript": "NM_001406024.1",
"protein_id": "NP_001392953.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 356,
"cds_start": null,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406024.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.*70G>C",
"hgvs_p": null,
"transcript": "ENST00000680659.1",
"protein_id": "ENSP00000504942.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": null,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680659.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OAS1",
"gene_hgnc_id": 8086,
"hgvs_c": "c.*2657G>C",
"hgvs_p": null,
"transcript": "ENST00000550883.2",
"protein_id": "ENSP00000450286.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": null,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550883.2"
},
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{
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{
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"gene_symbol": "OAS1",
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{
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{
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"consequences": [
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{
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{
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"intron_variant"
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"gene_symbol": "OAS1",
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"transcript": "NR_175990.1",
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"biotype": "pseudogene",
"feature": "NR_175990.1"
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],
"gene_symbol": "OAS1",
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"dbsnp": "rs1051042",
"frequency_reference_population": 0.6764076,
"hom_count_reference_population": 373960,
"allele_count_reference_population": 1088954,
"gnomad_exomes_af": 0.668822,
"gnomad_genomes_af": 0.74908,
"gnomad_exomes_ac": 974968,
"gnomad_genomes_ac": 113986,
"gnomad_exomes_homalt": 330073,
"gnomad_genomes_homalt": 43887,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000011834173392344383,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.005,
"revel_prediction": "Benign",
"alphamissense_score": 0.0859,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.368,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_016816.4",
"gene_symbol": "OAS1",
"hgnc_id": 8086,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1082G>C",
"hgvs_p": "p.Arg361Thr"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000552784.1",
"gene_symbol": "ENSG00000257452",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.354-10754C>G",
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}
],
"clinvar_disease": "OAS1-related disorder,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not provided|OAS1-related disorder|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}