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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: 9-90864655-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=90864655&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 90864655,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003177.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu",
"transcript": "NM_003177.7",
"protein_id": "NP_003168.2",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 635,
"cds_start": 784,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 4973,
"mane_select": "ENST00000375754.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003177.7"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu",
"transcript": "ENST00000375754.9",
"protein_id": "ENSP00000364907.4",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 635,
"cds_start": 784,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 4973,
"mane_select": "NM_003177.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375754.9"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu",
"transcript": "ENST00000375746.1",
"protein_id": "ENSP00000364898.1",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 635,
"cds_start": 784,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 4990,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375746.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu",
"transcript": "ENST00000375747.5",
"protein_id": "ENSP00000364899.1",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 612,
"cds_start": 784,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 4908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375747.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu",
"transcript": "ENST00000375751.8",
"protein_id": "ENSP00000364904.4",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 612,
"cds_start": 784,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 4936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375751.8"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.802A>C",
"hgvs_p": "p.Ile268Leu",
"transcript": "ENST00000865878.1",
"protein_id": "ENSP00000535937.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 641,
"cds_start": 802,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 2562,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865878.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu",
"transcript": "NM_001174167.3",
"protein_id": "NP_001167638.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 635,
"cds_start": 784,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 5058,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174167.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu",
"transcript": "ENST00000865873.1",
"protein_id": "ENSP00000535932.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 635,
"cds_start": 784,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865873.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu",
"transcript": "ENST00000865875.1",
"protein_id": "ENSP00000535934.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 635,
"cds_start": 784,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 2756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865875.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu",
"transcript": "ENST00000865876.1",
"protein_id": "ENSP00000535935.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 635,
"cds_start": 784,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 2687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865876.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu",
"transcript": "ENST00000865877.1",
"protein_id": "ENSP00000535936.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 635,
"cds_start": 784,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865877.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu",
"transcript": "ENST00000970483.1",
"protein_id": "ENSP00000640542.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 635,
"cds_start": 784,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 2759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970483.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu",
"transcript": "ENST00000970484.1",
"protein_id": "ENSP00000640543.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 635,
"cds_start": 784,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 2747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970484.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu",
"transcript": "NM_001135052.4",
"protein_id": "NP_001128524.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 612,
"cds_start": 784,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 4904,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135052.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu",
"transcript": "NM_001174168.3",
"protein_id": "NP_001167639.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 612,
"cds_start": 784,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 5235,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174168.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu",
"transcript": "ENST00000865872.1",
"protein_id": "ENSP00000535931.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 612,
"cds_start": 784,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865872.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu",
"transcript": "ENST00000865874.1",
"protein_id": "ENSP00000535933.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 612,
"cds_start": 784,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 959,
"cdna_end": null,
"cdna_length": 2629,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865874.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu",
"transcript": "ENST00000865879.1",
"protein_id": "ENSP00000535938.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 612,
"cds_start": 784,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 2704,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865879.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu",
"transcript": "ENST00000970482.1",
"protein_id": "ENSP00000640541.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 588,
"cds_start": 784,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970482.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu",
"transcript": "XM_005252147.5",
"protein_id": "XP_005252204.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 635,
"cds_start": 784,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 5119,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005252147.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu",
"transcript": "XM_011518946.4",
"protein_id": "XP_011517248.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 635,
"cds_start": 784,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 5304,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518946.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu",
"transcript": "XM_047423809.1",
"protein_id": "XP_047279765.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 635,
"cds_start": 784,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 9488,
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"cdna_length": 13561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423809.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu",
"transcript": "XM_047423810.1",
"protein_id": "XP_047279766.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 612,
"cds_start": 784,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 5050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423810.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu",
"transcript": "XM_047423811.1",
"protein_id": "XP_047279767.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 335,
"cds_start": 784,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 1182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423811.1"
}
],
"gene_symbol": "SYK",
"gene_hgnc_id": 11491,
"dbsnp": "rs112619650",
"frequency_reference_population": 0.0013084497,
"hom_count_reference_population": 25,
"allele_count_reference_population": 2112,
"gnomad_exomes_af": 0.000810629,
"gnomad_genomes_af": 0.00608683,
"gnomad_exomes_ac": 1185,
"gnomad_genomes_ac": 927,
"gnomad_exomes_homalt": 13,
"gnomad_genomes_homalt": 12,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0060960352420806885,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.0749,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.083,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003177.7",
"gene_symbol": "SYK",
"hgnc_id": 11491,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.784A>C",
"hgvs_p": "p.Ile262Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}