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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: 11-62338073-C-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62338073&ref=C&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 62338073,
"ref": "C",
"alt": "CG",
"effect": "frameshift_variant",
"transcript": "NM_025080.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "c.97dupG",
"hgvs_p": "p.Val33fs",
"transcript": "NM_001083926.2",
"protein_id": "NP_001077395.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 308,
"cds_start": 98,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000415229.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083926.2"
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "c.97dupG",
"hgvs_p": "p.Val33fs",
"transcript": "ENST00000415229.6",
"protein_id": "ENSP00000400057.2",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 308,
"cds_start": 98,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001083926.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415229.6"
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "c.97dupG",
"hgvs_p": "p.Val33fs",
"transcript": "ENST00000301776.9",
"protein_id": "ENSP00000301776.5",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 308,
"cds_start": 98,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301776.9"
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "c.97dupG",
"hgvs_p": "p.Val33fs",
"transcript": "ENST00000628829.2",
"protein_id": "ENSP00000486943.1",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 70,
"cds_start": 98,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628829.2"
},
{
"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": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "n.97dupG",
"hgvs_p": null,
"transcript": "ENST00000534183.5",
"protein_id": "ENSP00000431772.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000534183.5"
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "c.97dupG",
"hgvs_p": "p.Val33fs",
"transcript": "ENST00000870127.1",
"protein_id": "ENSP00000540186.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 309,
"cds_start": 98,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870127.1"
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "c.97dupG",
"hgvs_p": "p.Val33fs",
"transcript": "NM_025080.4",
"protein_id": "NP_079356.3",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 308,
"cds_start": 98,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025080.4"
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "c.97dupG",
"hgvs_p": "p.Val33fs",
"transcript": "ENST00000870124.1",
"protein_id": "ENSP00000540183.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 308,
"cds_start": 98,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870124.1"
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "c.97dupG",
"hgvs_p": "p.Val33fs",
"transcript": "ENST00000870128.1",
"protein_id": "ENSP00000540187.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 308,
"cds_start": 98,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870128.1"
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "c.97dupG",
"hgvs_p": "p.Val33fs",
"transcript": "ENST00000956002.1",
"protein_id": "ENSP00000626061.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 308,
"cds_start": 98,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956002.1"
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "c.97dupG",
"hgvs_p": "p.Val33fs",
"transcript": "ENST00000956001.1",
"protein_id": "ENSP00000626060.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 307,
"cds_start": 98,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956001.1"
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "c.97dupG",
"hgvs_p": "p.Val33fs",
"transcript": "ENST00000935951.1",
"protein_id": "ENSP00000606010.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 292,
"cds_start": 98,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935951.1"
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "c.97dupG",
"hgvs_p": "p.Val33fs",
"transcript": "ENST00000935954.1",
"protein_id": "ENSP00000606013.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 292,
"cds_start": 98,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935954.1"
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "c.97dupG",
"hgvs_p": "p.Val33fs",
"transcript": "ENST00000870126.1",
"protein_id": "ENSP00000540185.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 271,
"cds_start": 98,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870126.1"
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "c.97dupG",
"hgvs_p": "p.Val33fs",
"transcript": "ENST00000935953.1",
"protein_id": "ENSP00000606012.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 271,
"cds_start": 98,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935953.1"
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "c.97dupG",
"hgvs_p": "p.Val33fs",
"transcript": "ENST00000870125.1",
"protein_id": "ENSP00000540184.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 270,
"cds_start": 98,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870125.1"
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "c.97dupG",
"hgvs_p": "p.Val33fs",
"transcript": "ENST00000935952.1",
"protein_id": "ENSP00000606011.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 260,
"cds_start": 98,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935952.1"
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "c.97dupG",
"hgvs_p": "p.Val33fs",
"transcript": "NM_001441216.1",
"protein_id": "NP_001428145.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 189,
"cds_start": 98,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441216.1"
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "c.97dupG",
"hgvs_p": "p.Val33fs",
"transcript": "NM_001441217.1",
"protein_id": "NP_001428146.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 189,
"cds_start": 98,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441217.1"
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "c.97dupG",
"hgvs_p": "p.Val33fs",
"transcript": "ENST00000534571.5",
"protein_id": "ENSP00000478649.1",
"transcript_support_level": 2,
"aa_start": 33,
"aa_end": null,
"aa_length": 164,
"cds_start": 98,
"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": "ENST00000534571.5"
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "c.19dupG",
"hgvs_p": "p.Val7fs",
"transcript": "ENST00000526096.2",
"protein_id": "ENSP00000482684.1",
"transcript_support_level": 3,
"aa_start": 7,
"aa_end": null,
"aa_length": 132,
"cds_start": 20,
"cds_end": null,
"cds_length": 401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526096.2"
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "c.97dupG",
"hgvs_p": "p.Val33fs",
"transcript": "XM_011545265.4",
"protein_id": "XP_011543567.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 224,
"cds_start": 98,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545265.4"
},
{
"aa_ref": "V",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "c.97dupG",
"hgvs_p": "p.Val33fs",
"transcript": "XM_047427631.1",
"protein_id": "XP_047283587.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 218,
"cds_start": 98,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427631.1"
},
{
"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": "ENSG00000255118",
"gene_hgnc_id": null,
"hgvs_c": "n.17dupC",
"hgvs_p": null,
"transcript": "ENST00000400902.4",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000400902.4"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "n.301dupG",
"hgvs_p": null,
"transcript": "ENST00000525496.1",
"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": "ENST00000525496.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"hgvs_c": "n.97dupG",
"hgvs_p": null,
"transcript": "ENST00000529226.3",
"protein_id": "ENSP00000433136.1",
"transcript_support_level": 4,
"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": "ENST00000529226.3"
}
],
"gene_symbol": "ASRGL1",
"gene_hgnc_id": 16448,
"dbsnp": "rs2134556258",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.278,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_025080.4",
"gene_symbol": "ASRGL1",
"hgnc_id": 16448,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.97dupG",
"hgvs_p": "p.Val33fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000400902.4",
"gene_symbol": "ENSG00000255118",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.17dupC",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}