← 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: X-81115177-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=81115177&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "HMGN5",
"hgnc_id": 8013,
"hgvs_c": "c.321T>C",
"hgvs_p": "p.Asp107Asp",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_030763.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.87,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 282,
"aa_ref": "D",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2099,
"cdna_start": 621,
"cds_end": null,
"cds_length": 849,
"cds_start": 321,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_030763.3",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.321T>C",
"hgvs_p": "p.Asp107Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358130.7",
"protein_coding": true,
"protein_id": "NP_110390.1",
"strand": false,
"transcript": "NM_030763.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 282,
"aa_ref": "D",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2099,
"cdna_start": 621,
"cds_end": null,
"cds_length": 849,
"cds_start": 321,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000358130.7",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.321T>C",
"hgvs_p": "p.Asp107Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030763.3",
"protein_coding": true,
"protein_id": "ENSP00000350848.2",
"strand": false,
"transcript": "ENST00000358130.7",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 147,
"aa_ref": "D",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 578,
"cdna_start": 455,
"cds_end": null,
"cds_length": 444,
"cds_start": 321,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000430960.5",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.321T>C",
"hgvs_p": "p.Asp107Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399626.1",
"strand": false,
"transcript": "ENST00000430960.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 321,
"aa_ref": "D",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1625,
"cdna_start": 519,
"cds_end": null,
"cds_length": 966,
"cds_start": 438,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916831.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.438T>C",
"hgvs_p": "p.Asp146Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586890.1",
"strand": false,
"transcript": "ENST00000916831.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 320,
"aa_ref": "D",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1710,
"cdna_start": 604,
"cds_end": null,
"cds_length": 963,
"cds_start": 435,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000966207.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.435T>C",
"hgvs_p": "p.Asp145Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636266.1",
"strand": false,
"transcript": "ENST00000966207.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 283,
"aa_ref": "D",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3169,
"cdna_start": 907,
"cds_end": null,
"cds_length": 852,
"cds_start": 324,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883543.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.324T>C",
"hgvs_p": "p.Asp108Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553602.1",
"strand": false,
"transcript": "ENST00000883543.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 283,
"aa_ref": "D",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 517,
"cds_end": null,
"cds_length": 852,
"cds_start": 324,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000916825.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.324T>C",
"hgvs_p": "p.Asp108Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586884.1",
"strand": false,
"transcript": "ENST00000916825.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 283,
"aa_ref": "D",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2899,
"cdna_start": 639,
"cds_end": null,
"cds_length": 852,
"cds_start": 324,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000966202.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.324T>C",
"hgvs_p": "p.Asp108Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636261.1",
"strand": false,
"transcript": "ENST00000966202.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 282,
"aa_ref": "D",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2117,
"cdna_start": 849,
"cds_end": null,
"cds_length": 849,
"cds_start": 321,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000966204.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.321T>C",
"hgvs_p": "p.Asp107Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636263.1",
"strand": false,
"transcript": "ENST00000966204.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 282,
"aa_ref": "D",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1832,
"cdna_start": 728,
"cds_end": null,
"cds_length": 849,
"cds_start": 321,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000966206.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.321T>C",
"hgvs_p": "p.Asp107Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636265.1",
"strand": false,
"transcript": "ENST00000966206.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 273,
"aa_ref": "D",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1899,
"cdna_start": 793,
"cds_end": null,
"cds_length": 822,
"cds_start": 294,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883544.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.294T>C",
"hgvs_p": "p.Asp98Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553603.1",
"strand": false,
"transcript": "ENST00000883544.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 273,
"aa_ref": "D",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1741,
"cdna_start": 479,
"cds_end": null,
"cds_length": 822,
"cds_start": 294,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000916827.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.294T>C",
"hgvs_p": "p.Asp98Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586886.1",
"strand": false,
"transcript": "ENST00000916827.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 273,
"aa_ref": "D",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1590,
"cdna_start": 481,
"cds_end": null,
"cds_length": 822,
"cds_start": 294,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000916829.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.294T>C",
"hgvs_p": "p.Asp98Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586888.1",
"strand": false,
"transcript": "ENST00000916829.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 272,
"aa_ref": "D",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1541,
"cdna_start": 434,
"cds_end": null,
"cds_length": 819,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000883548.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.291T>C",
"hgvs_p": "p.Asp97Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553607.1",
"strand": false,
"transcript": "ENST00000883548.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 264,
"aa_ref": "D",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1677,
"cdna_start": 570,
"cds_end": null,
"cds_length": 795,
"cds_start": 267,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883545.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.267T>C",
"hgvs_p": "p.Asp89Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553604.1",
"strand": false,
"transcript": "ENST00000883545.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 264,
"aa_ref": "D",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1705,
"cdna_start": 435,
"cds_end": null,
"cds_length": 795,
"cds_start": 267,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000916828.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.267T>C",
"hgvs_p": "p.Asp89Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586887.1",
"strand": false,
"transcript": "ENST00000916828.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 263,
"aa_ref": "D",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1517,
"cdna_start": 409,
"cds_end": null,
"cds_length": 792,
"cds_start": 264,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000883546.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.264T>C",
"hgvs_p": "p.Asp88Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553605.1",
"strand": false,
"transcript": "ENST00000883546.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 262,
"aa_ref": "D",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2059,
"cdna_start": 780,
"cds_end": null,
"cds_length": 789,
"cds_start": 261,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000966203.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.261T>C",
"hgvs_p": "p.Asp87Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636262.1",
"strand": false,
"transcript": "ENST00000966203.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 262,
"aa_ref": "D",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2546,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 789,
"cds_start": 261,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000966205.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.261T>C",
"hgvs_p": "p.Asp87Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636264.1",
"strand": false,
"transcript": "ENST00000966205.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 254,
"aa_ref": "D",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1469,
"cdna_start": 360,
"cds_end": null,
"cds_length": 765,
"cds_start": 237,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000916830.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.237T>C",
"hgvs_p": "p.Asp79Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586889.1",
"strand": false,
"transcript": "ENST00000916830.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 244,
"aa_ref": "D",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1459,
"cdna_start": 350,
"cds_end": null,
"cds_length": 735,
"cds_start": 207,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000883547.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.207T>C",
"hgvs_p": "p.Asp69Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553606.1",
"strand": false,
"transcript": "ENST00000883547.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 200,
"aa_ref": "D",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 742,
"cdna_start": 400,
"cds_end": null,
"cds_length": 603,
"cds_start": 261,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000447319.5",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.261T>C",
"hgvs_p": "p.Asp87Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408060.1",
"strand": false,
"transcript": "ENST00000447319.5",
"transcript_support_level": 3
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 160,
"aa_ref": "D",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 572,
"cdna_start": 380,
"cds_end": null,
"cds_length": 483,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000373250.7",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.291T>C",
"hgvs_p": "p.Asp97Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362347.3",
"strand": false,
"transcript": "ENST00000373250.7",
"transcript_support_level": 3
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 283,
"aa_ref": "D",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2102,
"cdna_start": 624,
"cds_end": null,
"cds_length": 852,
"cds_start": 324,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047442510.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.324T>C",
"hgvs_p": "p.Asp108Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298466.1",
"strand": false,
"transcript": "XM_047442510.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 283,
"aa_ref": "D",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1928,
"cdna_start": 450,
"cds_end": null,
"cds_length": 852,
"cds_start": 324,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047442511.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.324T>C",
"hgvs_p": "p.Asp108Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298467.1",
"strand": false,
"transcript": "XM_047442511.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 273,
"aa_ref": "D",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1898,
"cdna_start": 420,
"cds_end": null,
"cds_length": 822,
"cds_start": 294,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047442512.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.294T>C",
"hgvs_p": "p.Asp98Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298468.1",
"strand": false,
"transcript": "XM_047442512.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 272,
"aa_ref": "D",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 417,
"cds_end": null,
"cds_length": 819,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047442513.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.291T>C",
"hgvs_p": "p.Asp97Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298469.1",
"strand": false,
"transcript": "XM_047442513.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 272,
"aa_ref": "D",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2069,
"cdna_start": 591,
"cds_end": null,
"cds_length": 819,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047442514.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.291T>C",
"hgvs_p": "p.Asp97Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298470.1",
"strand": false,
"transcript": "XM_047442514.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 262,
"aa_ref": "D",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1865,
"cdna_start": 387,
"cds_end": null,
"cds_length": 789,
"cds_start": 261,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047442515.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.261T>C",
"hgvs_p": "p.Asp87Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298471.1",
"strand": false,
"transcript": "XM_047442515.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 202,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1531,
"cdna_start": null,
"cds_end": null,
"cds_length": 609,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916826.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.238-157T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586885.1",
"strand": false,
"transcript": "ENST00000916826.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 547,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000491275.1",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "n.481T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000491275.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 101,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 859,
"cdna_start": null,
"cds_end": null,
"cds_length": 306,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000436386.5",
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"hgvs_c": "c.*15T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413402.1",
"strand": true,
"transcript": "ENST00000436386.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1183434045",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0000018865895,
"gene_hgnc_id": 8013,
"gene_symbol": "HMGN5",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000188659,
"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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.319,
"pos": 81115177,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_030763.3"
}
]
}