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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: 3-138684790-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=138684790&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 138684790,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006219.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Asn717Ser",
"transcript": "NM_006219.3",
"protein_id": "NP_006210.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2150,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000674063.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006219.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Asn717Ser",
"transcript": "ENST00000674063.1",
"protein_id": "ENSP00000501150.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2150,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006219.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674063.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Asn717Ser",
"transcript": "NM_001437286.1",
"protein_id": "NP_001424215.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2150,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437286.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Asn717Ser",
"transcript": "NM_001437287.1",
"protein_id": "NP_001424216.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2150,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437287.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Asn717Ser",
"transcript": "NM_001437288.1",
"protein_id": "NP_001424217.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2150,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437288.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Asn717Ser",
"transcript": "NM_001437293.1",
"protein_id": "NP_001424222.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2150,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437293.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Asn717Ser",
"transcript": "ENST00000477593.6",
"protein_id": "ENSP00000418143.1",
"transcript_support_level": 5,
"aa_start": 717,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2150,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477593.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Asn717Ser",
"transcript": "ENST00000894539.1",
"protein_id": "ENSP00000564598.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2150,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894539.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Asn717Ser",
"transcript": "ENST00000894543.1",
"protein_id": "ENSP00000564602.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2150,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894543.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Asn717Ser",
"transcript": "ENST00000894546.1",
"protein_id": "ENSP00000564605.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2150,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894546.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Asn717Ser",
"transcript": "ENST00000938763.1",
"protein_id": "ENSP00000608822.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2150,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938763.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Asn717Ser",
"transcript": "ENST00000938766.1",
"protein_id": "ENSP00000608825.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2150,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938766.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Asn717Ser",
"transcript": "ENST00000938769.1",
"protein_id": "ENSP00000608828.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2150,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938769.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Asn717Ser",
"transcript": "ENST00000955024.1",
"protein_id": "ENSP00000625083.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2150,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955024.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Asn717Ser",
"transcript": "ENST00000955025.1",
"protein_id": "ENSP00000625084.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2150,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955025.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Asn717Ser",
"transcript": "ENST00000955028.1",
"protein_id": "ENSP00000625087.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2150,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955028.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Asn717Ser",
"transcript": "ENST00000955030.1",
"protein_id": "ENSP00000625089.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2150,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955030.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2147A>G",
"hgvs_p": "p.Asn716Ser",
"transcript": "ENST00000894542.1",
"protein_id": "ENSP00000564601.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 1069,
"cds_start": 2147,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894542.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2108A>G",
"hgvs_p": "p.Asn703Ser",
"transcript": "ENST00000894540.1",
"protein_id": "ENSP00000564599.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 1056,
"cds_start": 2108,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894540.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2108A>G",
"hgvs_p": "p.Asn703Ser",
"transcript": "ENST00000955027.1",
"protein_id": "ENSP00000625085.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 1056,
"cds_start": 2108,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955027.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2099A>G",
"hgvs_p": "p.Asn700Ser",
"transcript": "NM_001437289.1",
"protein_id": "NP_001424218.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2099,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437289.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "c.2099A>G",
"hgvs_p": "p.Asn700Ser",
"transcript": "NM_001437290.1",
"protein_id": "NP_001424219.1",
"transcript_support_level": null,
"aa_start": 700,
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"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": null,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "n.337A>G",
"hgvs_p": null,
"transcript": "ENST00000485060.1",
"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": "retained_intron",
"feature": "ENST00000485060.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "n.*1719A>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": null,
"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": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "n.*612A>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": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"hgvs_c": "n.733-1003A>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000473435.1"
}
],
"gene_symbol": "PIK3CB",
"gene_hgnc_id": 8976,
"dbsnp": "rs74701669",
"frequency_reference_population": 0.0011023313,
"hom_count_reference_population": 11,
"allele_count_reference_population": 1777,
"gnomad_exomes_af": 0.00111254,
"gnomad_genomes_af": 0.00100452,
"gnomad_exomes_ac": 1624,
"gnomad_genomes_ac": 153,
"gnomad_exomes_homalt": 11,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009204357862472534,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.294,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0683,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.947,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006219.3",
"gene_symbol": "PIK3CB",
"hgnc_id": 8976,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.Asn717Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}