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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: 16-28866166-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=28866166&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 28866166,
"ref": "T",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001145795.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "c.72T>A",
"hgvs_p": "p.Pro24Pro",
"transcript": "NM_001387430.1",
"protein_id": "NP_001374359.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 756,
"cds_start": 72,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684370.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387430.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "c.72T>A",
"hgvs_p": "p.Pro24Pro",
"transcript": "ENST00000684370.1",
"protein_id": "ENSP00000507475.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 756,
"cds_start": 72,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001387430.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684370.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "c.72T>A",
"hgvs_p": "p.Pro24Pro",
"transcript": "ENST00000618521.4",
"protein_id": "ENSP00000481709.1",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 756,
"cds_start": 72,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618521.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "c.72T>A",
"hgvs_p": "p.Pro24Pro",
"transcript": "ENST00000359285.10",
"protein_id": "ENSP00000352232.5",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 683,
"cds_start": 72,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359285.10"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "c.72T>A",
"hgvs_p": "p.Pro24Pro",
"transcript": "ENST00000337120.9",
"protein_id": "ENSP00000337163.5",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 671,
"cds_start": 72,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337120.9"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "c.72T>A",
"hgvs_p": "p.Pro24Pro",
"transcript": "NM_001145795.2",
"protein_id": "NP_001139267.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 756,
"cds_start": 72,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145795.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "c.72T>A",
"hgvs_p": "p.Pro24Pro",
"transcript": "NM_001308293.2",
"protein_id": "NP_001295222.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 756,
"cds_start": 72,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308293.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "c.72T>A",
"hgvs_p": "p.Pro24Pro",
"transcript": "NM_001387404.1",
"protein_id": "NP_001374333.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 756,
"cds_start": 72,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387404.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "c.72T>A",
"hgvs_p": "p.Pro24Pro",
"transcript": "ENST00000322610.12",
"protein_id": "ENSP00000321221.7",
"transcript_support_level": 2,
"aa_start": 24,
"aa_end": null,
"aa_length": 756,
"cds_start": 72,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322610.12"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "c.72T>A",
"hgvs_p": "p.Pro24Pro",
"transcript": "ENST00000893539.1",
"protein_id": "ENSP00000563598.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 756,
"cds_start": 72,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893539.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "c.72T>A",
"hgvs_p": "p.Pro24Pro",
"transcript": "ENST00000942394.1",
"protein_id": "ENSP00000612453.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 756,
"cds_start": 72,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942394.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "c.72T>A",
"hgvs_p": "p.Pro24Pro",
"transcript": "NM_001145797.2",
"protein_id": "NP_001139269.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 683,
"cds_start": 72,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145797.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "c.72T>A",
"hgvs_p": "p.Pro24Pro",
"transcript": "NM_001145796.2",
"protein_id": "NP_001139268.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 671,
"cds_start": 72,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145796.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "c.72T>A",
"hgvs_p": "p.Pro24Pro",
"transcript": "NM_001145812.2",
"protein_id": "NP_001139284.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 671,
"cds_start": 72,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145812.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "c.72T>A",
"hgvs_p": "p.Pro24Pro",
"transcript": "NM_015503.3",
"protein_id": "NP_056318.2",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 671,
"cds_start": 72,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015503.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "c.72T>A",
"hgvs_p": "p.Pro24Pro",
"transcript": "ENST00000395532.8",
"protein_id": "ENSP00000378903.4",
"transcript_support_level": 2,
"aa_start": 24,
"aa_end": null,
"aa_length": 671,
"cds_start": 72,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395532.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "c.72T>A",
"hgvs_p": "p.Pro24Pro",
"transcript": "ENST00000707128.1",
"protein_id": "ENSP00000516756.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 671,
"cds_start": 72,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000707128.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "c.72T>A",
"hgvs_p": "p.Pro24Pro",
"transcript": "ENST00000563591.5",
"protein_id": "ENSP00000458097.1",
"transcript_support_level": 2,
"aa_start": 24,
"aa_end": null,
"aa_length": 62,
"cds_start": 72,
"cds_end": null,
"cds_length": 190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563591.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "c.72T>A",
"hgvs_p": "p.Pro24Pro",
"transcript": "ENST00000566209.1",
"protein_id": "ENSP00000457214.1",
"transcript_support_level": 4,
"aa_start": 24,
"aa_end": null,
"aa_length": 55,
"cds_start": 72,
"cds_end": null,
"cds_length": 170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566209.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "c.10-1165T>A",
"hgvs_p": null,
"transcript": "ENST00000545570.5",
"protein_id": "ENSP00000440354.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": null,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545570.5"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "c.-26-1208T>A",
"hgvs_p": null,
"transcript": "NM_001308294.2",
"protein_id": "NP_001295223.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308294.2"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "c.-26-1208T>A",
"hgvs_p": null,
"transcript": "ENST00000538342.5",
"protein_id": "ENSP00000438784.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538342.5"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "c.-29+2412T>A",
"hgvs_p": null,
"transcript": "ENST00000567536.5",
"protein_id": "ENSP00000455236.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 17,
"cds_start": null,
"cds_end": null,
"cds_length": 54,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567536.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"hgvs_c": "n.68+2221T>A",
"hgvs_p": null,
"transcript": "ENST00000563674.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000563674.1"
}
],
"gene_symbol": "SH2B1",
"gene_hgnc_id": 30417,
"dbsnp": "rs1212256189",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0.0000216367,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -6.088,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6,BP7",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001145795.2",
"gene_symbol": "SH2B1",
"hgnc_id": 30417,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.72T>A",
"hgvs_p": "p.Pro24Pro"
}
],
"clinvar_disease": "SH2B1-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "SH2B1-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}