← 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: 1-236538910-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=236538910&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LGALS8",
"hgnc_id": 6569,
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_006499.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0943,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.66,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.022184818983078003,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 317,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5957,
"cdna_start": 349,
"cds_end": null,
"cds_length": 954,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_201544.4",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366584.9",
"protein_coding": true,
"protein_id": "NP_963838.1",
"strand": true,
"transcript": "NM_201544.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 317,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5957,
"cdna_start": 349,
"cds_end": null,
"cds_length": 954,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000366584.9",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_201544.4",
"protein_coding": true,
"protein_id": "ENSP00000355543.4",
"strand": true,
"transcript": "ENST00000366584.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6281,
"cdna_start": 547,
"cds_end": null,
"cds_length": 1080,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000450372.6",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408657.2",
"strand": true,
"transcript": "ENST00000450372.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 317,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2437,
"cdna_start": 547,
"cds_end": null,
"cds_length": 954,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000341872.10",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000342139.6",
"strand": true,
"transcript": "ENST00000341872.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 300,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 903,
"cdna_start": 166,
"cds_end": null,
"cds_length": 903,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000525042.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431884.1",
"strand": true,
"transcript": "ENST00000525042.1",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 392,
"aa_ref": "M",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4576,
"cdna_start": 832,
"cds_end": null,
"cds_length": 1179,
"cds_start": 265,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000891073.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.265A>C",
"hgvs_p": "p.Met89Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561132.1",
"strand": true,
"transcript": "ENST00000891073.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6122,
"cdna_start": 388,
"cds_end": null,
"cds_length": 1080,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_006499.5",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006490.3",
"strand": true,
"transcript": "NM_006499.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6151,
"cdna_start": 417,
"cds_end": null,
"cds_length": 1080,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_201545.2",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_963839.1",
"strand": true,
"transcript": "NM_201545.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1402,
"cdna_start": 366,
"cds_end": null,
"cds_length": 1080,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000352231.6",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000309576.2",
"strand": true,
"transcript": "ENST00000352231.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6420,
"cdna_start": 686,
"cds_end": null,
"cds_length": 1080,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000526589.5",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435460.1",
"strand": true,
"transcript": "ENST00000526589.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1349,
"cdna_start": 315,
"cds_end": null,
"cds_length": 1080,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000527974.5",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431398.1",
"strand": true,
"transcript": "ENST00000527974.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5800,
"cdna_start": 629,
"cds_end": null,
"cds_length": 1080,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000891071.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561130.1",
"strand": true,
"transcript": "ENST00000891071.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4563,
"cdna_start": 800,
"cds_end": null,
"cds_length": 1080,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000891072.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561131.1",
"strand": true,
"transcript": "ENST00000891072.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2573,
"cdna_start": 551,
"cds_end": null,
"cds_length": 1080,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000891077.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561136.1",
"strand": true,
"transcript": "ENST00000891077.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2626,
"cdna_start": 604,
"cds_end": null,
"cds_length": 1080,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000891078.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561137.1",
"strand": true,
"transcript": "ENST00000891078.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2472,
"cdna_start": 456,
"cds_end": null,
"cds_length": 1080,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000891081.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561140.1",
"strand": true,
"transcript": "ENST00000891081.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1786,
"cdna_start": 501,
"cds_end": null,
"cds_length": 1080,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000891082.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561141.1",
"strand": true,
"transcript": "ENST00000891082.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1469,
"cdna_start": 433,
"cds_end": null,
"cds_length": 1080,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000891083.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561142.1",
"strand": true,
"transcript": "ENST00000891083.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1849,
"cdna_start": 811,
"cds_end": null,
"cds_length": 1080,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000891084.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561143.1",
"strand": true,
"transcript": "ENST00000891084.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1367,
"cdna_start": 398,
"cds_end": null,
"cds_length": 1080,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000918760.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588819.1",
"strand": true,
"transcript": "ENST00000918760.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2392,
"cdna_start": 375,
"cds_end": null,
"cds_length": 1080,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000968021.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638080.1",
"strand": true,
"transcript": "ENST00000968021.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2404,
"cdna_start": 386,
"cds_end": null,
"cds_length": 1080,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000968022.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638081.1",
"strand": true,
"transcript": "ENST00000968022.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1632,
"cdna_start": 564,
"cds_end": null,
"cds_length": 1080,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000968025.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638084.1",
"strand": true,
"transcript": "ENST00000968025.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 317,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5996,
"cdna_start": 388,
"cds_end": null,
"cds_length": 954,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_201543.4",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_963837.1",
"strand": true,
"transcript": "NM_201543.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 317,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1852,
"cdna_start": 429,
"cds_end": null,
"cds_length": 954,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000526634.5",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437040.1",
"strand": true,
"transcript": "ENST00000526634.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 317,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4321,
"cdna_start": 684,
"cds_end": null,
"cds_length": 954,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000891074.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561133.1",
"strand": true,
"transcript": "ENST00000891074.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 317,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3742,
"cdna_start": 266,
"cds_end": null,
"cds_length": 954,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000891075.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561134.1",
"strand": true,
"transcript": "ENST00000891075.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 317,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4287,
"cdna_start": 811,
"cds_end": null,
"cds_length": 954,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000891076.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561135.1",
"strand": true,
"transcript": "ENST00000891076.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 317,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2381,
"cdna_start": 485,
"cds_end": null,
"cds_length": 954,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000891079.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561138.1",
"strand": true,
"transcript": "ENST00000891079.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 317,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2319,
"cdna_start": 426,
"cds_end": null,
"cds_length": 954,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000891080.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561139.1",
"strand": true,
"transcript": "ENST00000891080.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 317,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2364,
"cdna_start": 475,
"cds_end": null,
"cds_length": 954,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000968020.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638079.1",
"strand": true,
"transcript": "ENST00000968020.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 317,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1314,
"cdna_start": 404,
"cds_end": null,
"cds_length": 954,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000968023.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638082.1",
"strand": true,
"transcript": "ENST00000968023.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 317,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1254,
"cdna_start": 398,
"cds_end": null,
"cds_length": 954,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000968024.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638083.1",
"strand": true,
"transcript": "ENST00000968024.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 300,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6097,
"cdna_start": 547,
"cds_end": null,
"cds_length": 903,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000416919.6",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410843.2",
"strand": true,
"transcript": "ENST00000416919.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 207,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1035,
"cdna_start": 576,
"cds_end": null,
"cds_length": 625,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000406509.7",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385999.3",
"strand": true,
"transcript": "ENST00000406509.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 174,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 819,
"cdna_start": 458,
"cds_end": null,
"cds_length": 527,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000238181.11",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000238181.7",
"strand": true,
"transcript": "ENST00000238181.11",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 166,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 846,
"cdna_start": 509,
"cds_end": null,
"cds_length": 503,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000454943.6",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405504.2",
"strand": true,
"transcript": "ENST00000454943.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 120,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 569,
"cdna_start": 371,
"cds_end": null,
"cds_length": 364,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000430527.6",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398630.2",
"strand": true,
"transcript": "ENST00000430527.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 105,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 799,
"cdna_start": 646,
"cds_end": null,
"cds_length": 319,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000481485.5",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435632.1",
"strand": true,
"transcript": "ENST00000481485.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6166,
"cdna_start": 432,
"cds_end": null,
"cds_length": 1080,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047420409.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276365.1",
"strand": true,
"transcript": "XM_047420409.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6243,
"cdna_start": 509,
"cds_end": null,
"cds_length": 1080,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047420410.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276366.1",
"strand": true,
"transcript": "XM_047420410.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6229,
"cdna_start": 495,
"cds_end": null,
"cds_length": 1080,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047420411.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276367.1",
"strand": true,
"transcript": "XM_047420411.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 329,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3913,
"cdna_start": 349,
"cds_end": null,
"cds_length": 990,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011544188.4",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542490.1",
"strand": true,
"transcript": "XM_011544188.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 317,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6040,
"cdna_start": 432,
"cds_end": null,
"cds_length": 954,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047420416.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276372.1",
"strand": true,
"transcript": "XM_047420416.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 287,
"aa_ref": "M",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3786,
"cdna_start": 349,
"cds_end": null,
"cds_length": 864,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017001274.3",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.166A>C",
"hgvs_p": "p.Met56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856763.1",
"strand": true,
"transcript": "XM_017001274.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 290,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1855,
"cdna_start": null,
"cds_end": null,
"cds_length": 873,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000323938.10",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.135-50A>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434860.1",
"strand": true,
"transcript": "ENST00000323938.10",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 200,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": null,
"cds_end": null,
"cds_length": 603,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918759.1",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "c.46-3851A>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588818.1",
"strand": true,
"transcript": "ENST00000918759.1",
"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": 1547,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000366583.6",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "n.342A>C",
"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": "ENST00000366583.6",
"transcript_support_level": 3
},
{
"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": 574,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000434231.6",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "n.77A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000407428.2",
"strand": true,
"transcript": "ENST00000434231.6",
"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": 564,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000442397.6",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "n.159A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000413278.2",
"strand": true,
"transcript": "ENST00000442397.6",
"transcript_support_level": 4
},
{
"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": 572,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000528782.5",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "n.346A>C",
"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": "ENST00000528782.5",
"transcript_support_level": 4
},
{
"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": 658,
"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": "ENST00000532826.5",
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"hgvs_c": "n.346A>C",
"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": "ENST00000532826.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1041937",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 6569,
"gene_symbol": "LGALS8",
"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": -0.115,
"pos": 236538910,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.028,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_006499.5"
}
]
}