← 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: 14-55145121-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=55145121&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": "LGALS3",
"hgnc_id": 6563,
"hgvs_c": "c.645A>G",
"hgvs_p": "p.Gln215Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001357678.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6299999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 958,
"cdna_start": 656,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_002306.4",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000254301.14",
"protein_coding": true,
"protein_id": "NP_002297.2",
"strand": true,
"transcript": "NM_002306.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 958,
"cdna_start": 656,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000254301.14",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002306.4",
"protein_coding": true,
"protein_id": "ENSP00000254301.9",
"strand": true,
"transcript": "ENST00000254301.14",
"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": 1734,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000556438.6",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "n.1442A>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": "ENST00000556438.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 297,
"aa_ref": "Q",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 961,
"cdna_start": 796,
"cds_end": null,
"cds_length": 894,
"cds_start": 744,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000947958.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.744A>G",
"hgvs_p": "p.Gln248Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618017.1",
"strand": true,
"transcript": "ENST00000947958.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 264,
"aa_ref": "Q",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 999,
"cdna_start": 697,
"cds_end": null,
"cds_length": 795,
"cds_start": 645,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001357678.2",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.645A>G",
"hgvs_p": "p.Gln215Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001344607.1",
"strand": true,
"transcript": "NM_001357678.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 257,
"aa_ref": "Q",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 978,
"cdna_start": 680,
"cds_end": null,
"cds_length": 774,
"cds_start": 624,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000888061.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.624A>G",
"hgvs_p": "p.Gln208Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558120.1",
"strand": true,
"transcript": "ENST00000888061.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3572,
"cdna_start": 671,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000888054.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558113.1",
"strand": true,
"transcript": "ENST00000888054.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 996,
"cdna_start": 711,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000888055.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558114.1",
"strand": true,
"transcript": "ENST00000888055.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1332,
"cdna_start": 1030,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000888056.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558115.1",
"strand": true,
"transcript": "ENST00000888056.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1148,
"cdna_start": 844,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000888057.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558116.1",
"strand": true,
"transcript": "ENST00000888057.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1007,
"cdna_start": 700,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000888058.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558117.1",
"strand": true,
"transcript": "ENST00000888058.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1302,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000888059.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558118.1",
"strand": true,
"transcript": "ENST00000888059.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1152,
"cdna_start": 852,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000888060.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558119.1",
"strand": true,
"transcript": "ENST00000888060.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1608,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000888062.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558121.1",
"strand": true,
"transcript": "ENST00000888062.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1733,
"cdna_start": 1441,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000888063.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558122.1",
"strand": true,
"transcript": "ENST00000888063.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1242,
"cdna_start": 942,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000888064.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558123.1",
"strand": true,
"transcript": "ENST00000888064.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1211,
"cdna_start": 1031,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000888065.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558124.1",
"strand": true,
"transcript": "ENST00000888065.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1070,
"cdna_start": 890,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000888066.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558125.1",
"strand": true,
"transcript": "ENST00000888066.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2431,
"cdna_start": 2251,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000888067.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558126.1",
"strand": true,
"transcript": "ENST00000888067.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3224,
"cdna_start": 2935,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000888068.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558127.1",
"strand": true,
"transcript": "ENST00000888068.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2803,
"cdna_start": 2623,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000888069.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558128.1",
"strand": true,
"transcript": "ENST00000888069.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1389,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000947951.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618010.1",
"strand": true,
"transcript": "ENST00000947951.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1158,
"cdna_start": 861,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000947952.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618011.1",
"strand": true,
"transcript": "ENST00000947952.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1946,
"cdna_start": 1657,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000947953.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618012.1",
"strand": true,
"transcript": "ENST00000947953.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1468,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000947954.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618013.1",
"strand": true,
"transcript": "ENST00000947954.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1472,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000947955.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618014.1",
"strand": true,
"transcript": "ENST00000947955.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1080,
"cdna_start": 795,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000947956.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618015.1",
"strand": true,
"transcript": "ENST00000947956.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 250,
"aa_ref": "Q",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4930,
"cdna_start": 4750,
"cds_end": null,
"cds_length": 753,
"cds_start": 603,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000947957.1",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "c.603A>G",
"hgvs_p": "p.Gln201Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618016.1",
"strand": true,
"transcript": "ENST00000947957.1",
"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": 1956,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_003225.2",
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"hgvs_c": "n.1647A>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": "NR_003225.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs11125",
"effect": "synonymous_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 6563,
"gene_symbol": "LGALS3",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": 0.213,
"pos": 55145121,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.1599999964237213,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.16,
"transcript": "NM_001357678.2"
}
]
}