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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: 11-72816734-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72816734&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72816734,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_033388.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.His42Arg",
"transcript": "NM_033388.2",
"protein_id": "NP_203746.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 619,
"cds_start": 125,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321297.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033388.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.His42Arg",
"transcript": "ENST00000321297.10",
"protein_id": "ENSP00000326340.5",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 619,
"cds_start": 125,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033388.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321297.10"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.His42Arg",
"transcript": "ENST00000534905.5",
"protein_id": "ENSP00000441189.1",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 164,
"cds_start": 125,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534905.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "c.137A>G",
"hgvs_p": "p.His46Arg",
"transcript": "ENST00000540567.1",
"protein_id": "ENSP00000443569.1",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 116,
"cds_start": 137,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540567.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "n.152A>G",
"hgvs_p": null,
"transcript": "ENST00000439504.6",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000439504.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.His42Arg",
"transcript": "ENST00000867653.1",
"protein_id": "ENSP00000537712.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 616,
"cds_start": 125,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867653.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.His42Arg",
"transcript": "ENST00000867652.1",
"protein_id": "ENSP00000537711.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 598,
"cds_start": 125,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867652.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.His42Arg",
"transcript": "ENST00000949596.1",
"protein_id": "ENSP00000619655.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 595,
"cds_start": 125,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949596.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.His42Arg",
"transcript": "ENST00000949594.1",
"protein_id": "ENSP00000619653.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 581,
"cds_start": 125,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949594.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.His42Arg",
"transcript": "ENST00000914046.1",
"protein_id": "ENSP00000584105.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 567,
"cds_start": 125,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914046.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.His42Arg",
"transcript": "ENST00000914047.1",
"protein_id": "ENSP00000584106.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 560,
"cds_start": 125,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914047.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.His42Arg",
"transcript": "ENST00000949597.1",
"protein_id": "ENSP00000619656.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 546,
"cds_start": 125,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949597.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.His42Arg",
"transcript": "ENST00000949595.1",
"protein_id": "ENSP00000619654.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 461,
"cds_start": 125,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949595.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.His42Arg",
"transcript": "XM_005274376.6",
"protein_id": "XP_005274433.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 604,
"cds_start": 125,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274376.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.His42Arg",
"transcript": "XM_006718732.3",
"protein_id": "XP_006718795.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 598,
"cds_start": 125,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718732.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.His42Arg",
"transcript": "XM_011545332.2",
"protein_id": "XP_011543634.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 581,
"cds_start": 125,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545332.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.His42Arg",
"transcript": "XM_047427840.1",
"protein_id": "XP_047283796.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 566,
"cds_start": 125,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427840.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.His42Arg",
"transcript": "XM_047427841.1",
"protein_id": "XP_047283797.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 472,
"cds_start": 125,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427841.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.His42Arg",
"transcript": "XM_006718733.4",
"protein_id": "XP_006718796.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 340,
"cds_start": 125,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718733.4"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "c.-314A>G",
"hgvs_p": null,
"transcript": "NM_001318766.2",
"protein_id": "NP_001305695.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 513,
"cds_start": null,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318766.2"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "c.-194A>G",
"hgvs_p": null,
"transcript": "XM_011545334.2",
"protein_id": "XP_011543636.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 513,
"cds_start": null,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545334.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "n.125A>G",
"hgvs_p": null,
"transcript": "ENST00000435507.6",
"protein_id": "ENSP00000400705.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000435507.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "n.470A>G",
"hgvs_p": null,
"transcript": "ENST00000451353.2",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000451353.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "n.146A>G",
"hgvs_p": null,
"transcript": "ENST00000537143.5",
"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": "ENST00000537143.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "n.146A>G",
"hgvs_p": null,
"transcript": "ENST00000542908.5",
"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": "ENST00000542908.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "n.125A>G",
"hgvs_p": null,
"transcript": "ENST00000544490.5",
"protein_id": "ENSP00000442635.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000544490.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"hgvs_c": "n.-11A>G",
"hgvs_p": null,
"transcript": "ENST00000538842.1",
"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": "ENST00000538842.1"
}
],
"gene_symbol": "ATG16L2",
"gene_hgnc_id": 25464,
"dbsnp": "rs765200178",
"frequency_reference_population": 0.0000054731095,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000547311,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07201254367828369,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": 0.0627,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.095,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_033388.2",
"gene_symbol": "ATG16L2",
"hgnc_id": 25464,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.125A>G",
"hgvs_p": "p.His42Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}