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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: 5-68280580-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=68280580&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 68280580,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_181523.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Ser229Ser",
"transcript": "NM_181523.3",
"protein_id": "NP_852664.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 724,
"cds_start": 687,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000521381.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181523.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Ser229Ser",
"transcript": "ENST00000521381.6",
"protein_id": "ENSP00000428056.1",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 724,
"cds_start": 687,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181523.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521381.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Ser229Ser",
"transcript": "ENST00000697461.1",
"protein_id": "ENSP00000513319.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 732,
"cds_start": 687,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697461.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Ser229Ser",
"transcript": "ENST00000870050.1",
"protein_id": "ENSP00000540109.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 732,
"cds_start": 687,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870050.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Ser229Ser",
"transcript": "ENST00000517643.2",
"protein_id": "ENSP00000513333.1",
"transcript_support_level": 3,
"aa_start": 229,
"aa_end": null,
"aa_length": 724,
"cds_start": 687,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517643.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Ser229Ser",
"transcript": "ENST00000521657.6",
"protein_id": "ENSP00000429277.1",
"transcript_support_level": 5,
"aa_start": 229,
"aa_end": null,
"aa_length": 724,
"cds_start": 687,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521657.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Ser229Ser",
"transcript": "ENST00000697458.1",
"protein_id": "ENSP00000513316.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 724,
"cds_start": 687,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697458.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Ser229Ser",
"transcript": "ENST00000870051.1",
"protein_id": "ENSP00000540110.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 724,
"cds_start": 687,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870051.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Ser229Ser",
"transcript": "ENST00000870052.1",
"protein_id": "ENSP00000540111.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 724,
"cds_start": 687,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870052.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Ser229Ser",
"transcript": "ENST00000870053.1",
"protein_id": "ENSP00000540112.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 724,
"cds_start": 687,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870053.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Ser229Ser",
"transcript": "ENST00000961623.1",
"protein_id": "ENSP00000631682.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 724,
"cds_start": 687,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961623.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Ser229Ser",
"transcript": "ENST00000870049.1",
"protein_id": "ENSP00000540108.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 705,
"cds_start": 687,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870049.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.612G>A",
"hgvs_p": "p.Ser204Ser",
"transcript": "ENST00000697457.1",
"protein_id": "ENSP00000513315.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 699,
"cds_start": 612,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697457.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Ser229Ser",
"transcript": "ENST00000961622.1",
"protein_id": "ENSP00000631681.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 667,
"cds_start": 687,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961622.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.162G>A",
"hgvs_p": "p.Ser54Ser",
"transcript": "ENST00000697460.1",
"protein_id": "ENSP00000513318.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 549,
"cds_start": 162,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697460.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.594G>A",
"hgvs_p": "p.Ser198Ser",
"transcript": "ENST00000697556.1",
"protein_id": "ENSP00000513334.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 405,
"cds_start": 594,
"cds_end": null,
"cds_length": 1220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697556.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.162G>A",
"hgvs_p": "p.Ser54Ser",
"transcript": "ENST00000520675.1",
"protein_id": "ENSP00000428566.2",
"transcript_support_level": 5,
"aa_start": 54,
"aa_end": null,
"aa_length": 53,
"cds_start": 162,
"cds_end": null,
"cds_length": 164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520675.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Ser229Ser",
"transcript": "XM_005248542.4",
"protein_id": "XP_005248599.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 724,
"cds_start": 687,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248542.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Ser229Ser",
"transcript": "XM_017009585.3",
"protein_id": "XP_016865074.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 724,
"cds_start": 687,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009585.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Ser229Ser",
"transcript": "XM_047417315.1",
"protein_id": "XP_047273271.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 724,
"cds_start": 687,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417315.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.360G>A",
"hgvs_p": "p.Ser120Ser",
"transcript": "XM_047417316.1",
"protein_id": "XP_047273272.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 615,
"cds_start": 360,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417316.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.360G>A",
"hgvs_p": "p.Ser120Ser",
"transcript": "XM_047417317.1",
"protein_id": "XP_047273273.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 615,
"cds_start": 360,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417317.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.-124G>A",
"hgvs_p": null,
"transcript": "ENST00000522084.6",
"protein_id": "ENSP00000429766.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": null,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522084.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"hgvs_c": "c.-124G>A",
"hgvs_p": null,
"transcript": "ENST00000523807.5",
"protein_id": "ENSP00000430126.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": null,
"cds_end": null,
"cds_length": 352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523807.5"
}
],
"gene_symbol": "PIK3R1",
"gene_hgnc_id": 8979,
"dbsnp": "rs34175949",
"frequency_reference_population": 0.001642303,
"hom_count_reference_population": 4,
"allele_count_reference_population": 2648,
"gnomad_exomes_af": 0.00166827,
"gnomad_genomes_af": 0.00139206,
"gnomad_exomes_ac": 2437,
"gnomad_genomes_ac": 211,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4000000059604645,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.66,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_181523.3",
"gene_symbol": "PIK3R1",
"hgnc_id": 8979,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.687G>A",
"hgvs_p": "p.Ser229Ser"
}
],
"clinvar_disease": " autosomal recessive,Agammaglobulinemia 7,Immunodeficiency 36 with lymphoproliferation,SHORT syndrome,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
"phenotype_combined": "Immunodeficiency 36 with lymphoproliferation;SHORT syndrome;Agammaglobulinemia 7, autosomal recessive|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}