← 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: 16-728325-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=728325&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HAGHL",
"hgnc_id": 14177,
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001323636.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.2891,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.09,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2978227138519287,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 282,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1512,
"cdna_start": 702,
"cds_end": null,
"cds_length": 849,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_032304.4",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000389703.8",
"protein_coding": true,
"protein_id": "NP_115680.1",
"strand": true,
"transcript": "NM_032304.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 282,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1512,
"cdna_start": 702,
"cds_end": null,
"cds_length": 849,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000389703.8",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032304.4",
"protein_coding": true,
"protein_id": "ENSP00000374353.3",
"strand": true,
"transcript": "ENST00000389703.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1295,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000389701.9",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "n.485A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000389701.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 337,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1196,
"cdna_start": 466,
"cds_end": null,
"cds_length": 1014,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001323636.2",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310565.1",
"strand": true,
"transcript": "NM_001323636.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 290,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1553,
"cdna_start": 431,
"cds_end": null,
"cds_length": 873,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_207112.2",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_996995.1",
"strand": true,
"transcript": "NM_207112.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 290,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1701,
"cdna_start": 579,
"cds_end": null,
"cds_length": 873,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000341413.8",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341952.4",
"strand": true,
"transcript": "ENST00000341413.8",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 282,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1171,
"cdna_start": 361,
"cds_end": null,
"cds_length": 849,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001290137.2",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277066.1",
"strand": true,
"transcript": "NM_001290137.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 282,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1241,
"cdna_start": 431,
"cds_end": null,
"cds_length": 849,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001290139.2",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277068.1",
"strand": true,
"transcript": "NM_001290139.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 282,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1276,
"cdna_start": 466,
"cds_end": null,
"cds_length": 849,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001323635.2",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310564.1",
"strand": true,
"transcript": "NM_001323635.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 282,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1614,
"cdna_start": 776,
"cds_end": null,
"cds_length": 849,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000905744.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575803.1",
"strand": true,
"transcript": "ENST00000905744.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 282,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1346,
"cdna_start": 536,
"cds_end": null,
"cds_length": 849,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000905745.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575804.1",
"strand": true,
"transcript": "ENST00000905745.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 282,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1344,
"cdna_start": 534,
"cds_end": null,
"cds_length": 849,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000905748.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575807.1",
"strand": true,
"transcript": "ENST00000905748.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 282,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1292,
"cdna_start": 451,
"cds_end": null,
"cds_length": 849,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000917737.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587796.1",
"strand": true,
"transcript": "ENST00000917737.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 282,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1486,
"cdna_start": 660,
"cds_end": null,
"cds_length": 849,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000917739.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587798.1",
"strand": true,
"transcript": "ENST00000917739.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 282,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1428,
"cdna_start": 618,
"cds_end": null,
"cds_length": 849,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000917740.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587799.1",
"strand": true,
"transcript": "ENST00000917740.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 281,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1331,
"cdna_start": 524,
"cds_end": null,
"cds_length": 846,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000905749.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575808.1",
"strand": true,
"transcript": "ENST00000905749.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 281,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1350,
"cdna_start": 511,
"cds_end": null,
"cds_length": 846,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000917738.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587797.1",
"strand": true,
"transcript": "ENST00000917738.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 273,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1533,
"cdna_start": 750,
"cds_end": null,
"cds_length": 822,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000905746.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575805.1",
"strand": true,
"transcript": "ENST00000905746.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 273,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1332,
"cdna_start": 546,
"cds_end": null,
"cds_length": 822,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000905747.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575806.1",
"strand": true,
"transcript": "ENST00000905747.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 273,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1326,
"cdna_start": 511,
"cds_end": null,
"cds_length": 822,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000971660.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641719.1",
"strand": true,
"transcript": "ENST00000971660.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 227,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1367,
"cdna_start": 358,
"cds_end": null,
"cds_length": 684,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001365282.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352211.1",
"strand": true,
"transcript": "NM_001365282.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 227,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1041,
"cdna_start": 562,
"cds_end": null,
"cds_length": 684,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000561546.5",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456390.1",
"strand": true,
"transcript": "ENST00000561546.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 221,
"aa_ref": "I",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1173,
"cdna_start": 360,
"cds_end": null,
"cds_length": 666,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000917742.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.115A>G",
"hgvs_p": "p.Ile39Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587801.1",
"strand": true,
"transcript": "ENST00000917742.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 202,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1820,
"cdna_start": 601,
"cds_end": null,
"cds_length": 609,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000549114.5",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447170.1",
"strand": true,
"transcript": "ENST00000549114.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 202,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1667,
"cdna_start": 466,
"cds_end": null,
"cds_length": 609,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000564537.5",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457219.1",
"strand": true,
"transcript": "ENST00000564537.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 199,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 650,
"cdna_start": 348,
"cds_end": null,
"cds_length": 600,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000562141.5",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456978.1",
"strand": true,
"transcript": "ENST00000562141.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 191,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 740,
"cdna_start": 462,
"cds_end": null,
"cds_length": 576,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000568141.5",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455616.1",
"strand": true,
"transcript": "ENST00000568141.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 171,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 735,
"cdna_start": 515,
"cds_end": null,
"cds_length": 518,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000567414.5",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460451.1",
"strand": true,
"transcript": "ENST00000567414.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 107,
"aa_ref": "I",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 493,
"cdna_start": 419,
"cds_end": null,
"cds_length": 324,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000563792.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.250A>G",
"hgvs_p": "p.Ile84Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456104.1",
"strand": true,
"transcript": "ENST00000563792.1",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 290,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1154,
"cdna_start": 466,
"cds_end": null,
"cds_length": 873,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047434792.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290748.1",
"strand": true,
"transcript": "XM_047434792.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 281,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1509,
"cdna_start": 702,
"cds_end": null,
"cds_length": 846,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011522712.2",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521014.1",
"strand": true,
"transcript": "XM_011522712.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 281,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1238,
"cdna_start": 431,
"cds_end": null,
"cds_length": 846,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047434794.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290750.1",
"strand": true,
"transcript": "XM_047434794.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 281,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1273,
"cdna_start": 466,
"cds_end": null,
"cds_length": 846,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047434795.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290751.1",
"strand": true,
"transcript": "XM_047434795.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 273,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1485,
"cdna_start": 702,
"cds_end": null,
"cds_length": 822,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005255632.2",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005255689.1",
"strand": true,
"transcript": "XM_005255632.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 273,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1214,
"cdna_start": 431,
"cds_end": null,
"cds_length": 822,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047434796.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290752.1",
"strand": true,
"transcript": "XM_047434796.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 273,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1249,
"cdna_start": 466,
"cds_end": null,
"cds_length": 822,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047434797.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290753.1",
"strand": true,
"transcript": "XM_047434797.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 217,
"aa_ref": "I",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1681,
"cdna_start": 702,
"cds_end": null,
"cds_length": 654,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047434798.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.298A>G",
"hgvs_p": "p.Ile100Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290754.1",
"strand": true,
"transcript": "XM_047434798.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 224,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1181,
"cdna_start": null,
"cds_end": null,
"cds_length": 675,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917743.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.223+92A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587802.1",
"strand": true,
"transcript": "ENST00000917743.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 223,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1174,
"cdna_start": null,
"cds_end": null,
"cds_length": 672,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917744.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.223+92A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587803.1",
"strand": true,
"transcript": "ENST00000917744.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 212,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1084,
"cdna_start": null,
"cds_end": null,
"cds_length": 639,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905750.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.288+92A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575809.1",
"strand": true,
"transcript": "ENST00000905750.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 203,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1150,
"cdna_start": null,
"cds_end": null,
"cds_length": 612,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917741.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.288+92A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587800.1",
"strand": true,
"transcript": "ENST00000917741.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 84,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 663,
"cdna_start": null,
"cds_end": null,
"cds_length": 255,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000564545.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "c.223+92A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454712.1",
"strand": true,
"transcript": "ENST00000564545.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 675,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000561750.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "n.468A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000561750.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2199,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000567696.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "n.922A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000567696.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 434,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000561561.6",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "n.-27A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457486.1",
"strand": true,
"transcript": "ENST00000561561.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 572,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000563156.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "n.-189A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000563156.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 440,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000569385.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "n.-249A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000458711.1",
"strand": true,
"transcript": "ENST00000569385.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2481,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647875.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "n.-186A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000647875.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 564,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000569143.1",
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"hgvs_c": "n.*159A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000569143.1",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs947423137",
"effect": "missense_variant",
"frequency_reference_population": 0.000001423214,
"gene_hgnc_id": 14177,
"gene_symbol": "HAGHL",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000142321,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.651,
"pos": 728325,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.134,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_001323636.2"
}
]
}