← Back to variant description
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: 3-138681982-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=138681982&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 138681982,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006219.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"transcript": "NM_006219.3",
"protein_id": "NP_006210.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 2844,
"cdna_end": null,
"cdna_length": 6259,
"mane_select": "ENST00000674063.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006219.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"transcript": "ENST00000674063.1",
"protein_id": "ENSP00000501150.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 2844,
"cdna_end": null,
"cdna_length": 6259,
"mane_select": "NM_006219.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674063.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"transcript": "NM_001437286.1",
"protein_id": "NP_001424215.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 2739,
"cdna_end": null,
"cdna_length": 6154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437286.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"transcript": "NM_001437287.1",
"protein_id": "NP_001424216.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 2911,
"cdna_end": null,
"cdna_length": 6326,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437287.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"transcript": "NM_001437288.1",
"protein_id": "NP_001424217.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 3071,
"cdna_end": null,
"cdna_length": 6486,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437288.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"transcript": "NM_001437293.1",
"protein_id": "NP_001424222.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 2966,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437293.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"transcript": "ENST00000477593.6",
"protein_id": "ENSP00000418143.1",
"transcript_support_level": 5,
"aa_start": 830,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 2563,
"cdna_end": null,
"cdna_length": 6340,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477593.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"transcript": "ENST00000894539.1",
"protein_id": "ENSP00000564598.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 2971,
"cdna_end": null,
"cdna_length": 5061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894539.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"transcript": "ENST00000894543.1",
"protein_id": "ENSP00000564602.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 3071,
"cdna_end": null,
"cdna_length": 4749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894543.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"transcript": "ENST00000894546.1",
"protein_id": "ENSP00000564605.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 2944,
"cdna_end": null,
"cdna_length": 4342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894546.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"transcript": "ENST00000938763.1",
"protein_id": "ENSP00000608822.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 2926,
"cdna_end": null,
"cdna_length": 5021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938763.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"transcript": "ENST00000938766.1",
"protein_id": "ENSP00000608825.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 2967,
"cdna_end": null,
"cdna_length": 5058,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938766.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"transcript": "ENST00000938769.1",
"protein_id": "ENSP00000608828.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 2854,
"cdna_end": null,
"cdna_length": 4950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938769.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"transcript": "ENST00000955024.1",
"protein_id": "ENSP00000625083.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 2959,
"cdna_end": null,
"cdna_length": 5050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955024.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"transcript": "ENST00000955025.1",
"protein_id": "ENSP00000625084.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 2831,
"cdna_end": null,
"cdna_length": 4920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955025.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"transcript": "ENST00000955028.1",
"protein_id": "ENSP00000625087.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 2738,
"cdna_end": null,
"cdna_length": 4835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955028.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"transcript": "ENST00000955030.1",
"protein_id": "ENSP00000625089.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 3000,
"cdna_end": null,
"cdna_length": 4619,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955030.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2486C>G",
"hgvs_p": "p.Ala829Gly",
"transcript": "ENST00000894542.1",
"protein_id": "ENSP00000564601.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 1069,
"cds_start": 2486,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 2798,
"cdna_end": null,
"cdna_length": 4891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894542.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2447C>G",
"hgvs_p": "p.Ala816Gly",
"transcript": "ENST00000894540.1",
"protein_id": "ENSP00000564599.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 1056,
"cds_start": 2447,
"cds_end": null,
"cds_length": 3171,
"cdna_start": 2796,
"cdna_end": null,
"cdna_length": 4886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894540.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2447C>G",
"hgvs_p": "p.Ala816Gly",
"transcript": "ENST00000955027.1",
"protein_id": "ENSP00000625085.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 1056,
"cds_start": 2447,
"cds_end": null,
"cds_length": 3171,
"cdna_start": 2686,
"cdna_end": null,
"cdna_length": 4771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955027.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2438C>G",
"hgvs_p": "p.Ala813Gly",
"transcript": "NM_001437289.1",
"protein_id": "NP_001424218.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2438,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 2793,
"cdna_end": null,
"cdna_length": 6208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437289.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2438C>G",
"hgvs_p": "p.Ala813Gly",
"transcript": "NM_001437290.1",
"protein_id": "NP_001424219.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2438,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 2688,
"cdna_end": null,
"cdna_length": 6103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437290.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2438C>G",
"hgvs_p": "p.Ala813Gly",
"transcript": "NM_001437291.1",
"protein_id": "NP_001424220.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2438,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 3020,
"cdna_end": null,
"cdna_length": 6435,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437291.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2438C>G",
"hgvs_p": "p.Ala813Gly",
"transcript": "NM_001437292.1",
"protein_id": "NP_001424221.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2438,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 2860,
"cdna_end": null,
"cdna_length": 6275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437292.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2408C>G",
"hgvs_p": "p.Ala803Gly",
"transcript": "ENST00000938758.1",
"protein_id": "ENSP00000608817.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2408,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 2787,
"cdna_end": null,
"cdna_length": 4882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938758.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2408C>G",
"hgvs_p": "p.Ala803Gly",
"transcript": "ENST00000938759.1",
"protein_id": "ENSP00000608818.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2408,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 2679,
"cdna_end": null,
"cdna_length": 4774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938759.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2405C>G",
"hgvs_p": "p.Ala802Gly",
"transcript": "ENST00000938760.1",
"protein_id": "ENSP00000608819.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2405,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 2642,
"cdna_end": null,
"cdna_length": 4735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938760.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2357C>G",
"hgvs_p": "p.Ala786Gly",
"transcript": "ENST00000938768.1",
"protein_id": "ENSP00000608827.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2357,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 2668,
"cdna_end": null,
"cdna_length": 4758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938768.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2309C>G",
"hgvs_p": "p.Ala770Gly",
"transcript": "ENST00000938761.1",
"protein_id": "ENSP00000608820.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2309,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 2645,
"cdna_end": null,
"cdna_length": 4736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938761.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2309C>G",
"hgvs_p": "p.Ala770Gly",
"transcript": "ENST00000938767.1",
"protein_id": "ENSP00000608826.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2309,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 2515,
"cdna_end": null,
"cdna_length": 4608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938767.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2303C>G",
"hgvs_p": "p.Ala768Gly",
"transcript": "ENST00000894541.1",
"protein_id": "ENSP00000564600.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3027,
"cdna_start": 2541,
"cdna_end": null,
"cdna_length": 4634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894541.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2303C>G",
"hgvs_p": "p.Ala768Gly",
"transcript": "ENST00000938765.1",
"protein_id": "ENSP00000608824.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3027,
"cdna_start": 2613,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938765.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2261C>G",
"hgvs_p": "p.Ala754Gly",
"transcript": "ENST00000894544.1",
"protein_id": "ENSP00000564603.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 994,
"cds_start": 2261,
"cds_end": null,
"cds_length": 2985,
"cdna_start": 2473,
"cdna_end": null,
"cdna_length": 4194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894544.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2123C>G",
"hgvs_p": "p.Ala708Gly",
"transcript": "ENST00000938762.1",
"protein_id": "ENSP00000608821.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 948,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 2450,
"cdna_end": null,
"cdna_length": 4547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938762.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2072C>G",
"hgvs_p": "p.Ala691Gly",
"transcript": "ENST00000938764.1",
"protein_id": "ENSP00000608823.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 931,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2384,
"cdna_end": null,
"cdna_length": 4477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938764.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.1382C>G",
"hgvs_p": "p.Ala461Gly",
"transcript": "ENST00000493568.5",
"protein_id": "ENSP00000417869.1",
"transcript_support_level": 2,
"aa_start": 461,
"aa_end": null,
"aa_length": 701,
"cds_start": 1382,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 2347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493568.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.1025C>G",
"hgvs_p": "p.Ala342Gly",
"transcript": "NM_001256045.2",
"protein_id": "NP_001242974.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 582,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1371,
"cdna_end": null,
"cdna_length": 4786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256045.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"transcript": "XM_047448307.1",
"protein_id": "XP_047304263.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 2908,
"cdna_end": null,
"cdna_length": 6323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448307.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"transcript": "XM_047448309.1",
"protein_id": "XP_047304265.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 2964,
"cdna_end": null,
"cdna_length": 6379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448309.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly",
"transcript": "XM_047448310.1",
"protein_id": "XP_047304266.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3213,
"cdna_start": 2804,
"cdna_end": null,
"cdna_length": 6219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448310.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2036+9018C>G",
"hgvs_p": null,
"transcript": "ENST00000894545.1",
"protein_id": "ENSP00000564604.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": null,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894545.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "n.*2058C>G",
"hgvs_p": null,
"transcript": "ENST00000462898.5",
"protein_id": "ENSP00000420108.1",
"transcript_support_level": 5,
"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": 4747,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000462898.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "n.*966C>G",
"hgvs_p": null,
"transcript": "ENST00000469284.6",
"protein_id": "ENSP00000419513.2",
"transcript_support_level": 5,
"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": 3164,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000469284.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "n.1371C>G",
"hgvs_p": null,
"transcript": "ENST00000481749.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2396,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000481749.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "n.*2058C>G",
"hgvs_p": null,
"transcript": "ENST00000462898.5",
"protein_id": "ENSP00000420108.1",
"transcript_support_level": 5,
"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": 4747,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000462898.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "n.*966C>G",
"hgvs_p": null,
"transcript": "ENST00000469284.6",
"protein_id": "ENSP00000419513.2",
"transcript_support_level": 5,
"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": 3164,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000469284.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "n.*168C>G",
"hgvs_p": null,
"transcript": "ENST00000473435.1",
"protein_id": "ENSP00000419091.1",
"transcript_support_level": 5,
"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": 904,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000473435.1"
}
],
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"dbsnp": "rs750375278",
"frequency_reference_population": 0.000005613338,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.0000048196,
"gnomad_genomes_af": 0.0000132519,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22709834575653076,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.22,
"revel_prediction": "Benign",
"alphamissense_score": 0.1701,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.931,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_006219.3",
"gene_symbol": "PIK3CB",
"hgnc_id": 8976,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2489C>G",
"hgvs_p": "p.Ala830Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}