← 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: 1-236548060-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=236548060&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 236548060,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006499.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"transcript": "NM_201544.4",
"protein_id": "NP_963838.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 317,
"cds_start": 853,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366584.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201544.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"transcript": "ENST00000366584.9",
"protein_id": "ENSP00000355543.4",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 317,
"cds_start": 853,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_201544.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366584.9"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile",
"transcript": "ENST00000450372.6",
"protein_id": "ENSP00000408657.2",
"transcript_support_level": 1,
"aa_start": 327,
"aa_end": null,
"aa_length": 359,
"cds_start": 979,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450372.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"transcript": "ENST00000341872.10",
"protein_id": "ENSP00000342139.6",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 317,
"cds_start": 853,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341872.10"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.802G>A",
"hgvs_p": "p.Val268Ile",
"transcript": "ENST00000525042.1",
"protein_id": "ENSP00000431884.1",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 300,
"cds_start": 802,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525042.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Val360Ile",
"transcript": "ENST00000891073.1",
"protein_id": "ENSP00000561132.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 392,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891073.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile",
"transcript": "NM_006499.5",
"protein_id": "NP_006490.3",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 359,
"cds_start": 979,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006499.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile",
"transcript": "NM_201545.2",
"protein_id": "NP_963839.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 359,
"cds_start": 979,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201545.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile",
"transcript": "ENST00000352231.6",
"protein_id": "ENSP00000309576.2",
"transcript_support_level": 2,
"aa_start": 327,
"aa_end": null,
"aa_length": 359,
"cds_start": 979,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352231.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile",
"transcript": "ENST00000526589.5",
"protein_id": "ENSP00000435460.1",
"transcript_support_level": 5,
"aa_start": 327,
"aa_end": null,
"aa_length": 359,
"cds_start": 979,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526589.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile",
"transcript": "ENST00000527974.5",
"protein_id": "ENSP00000431398.1",
"transcript_support_level": 5,
"aa_start": 327,
"aa_end": null,
"aa_length": 359,
"cds_start": 979,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527974.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile",
"transcript": "ENST00000891071.1",
"protein_id": "ENSP00000561130.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 359,
"cds_start": 979,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891071.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile",
"transcript": "ENST00000891072.1",
"protein_id": "ENSP00000561131.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 359,
"cds_start": 979,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891072.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile",
"transcript": "ENST00000891077.1",
"protein_id": "ENSP00000561136.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 359,
"cds_start": 979,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891077.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile",
"transcript": "ENST00000891078.1",
"protein_id": "ENSP00000561137.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 359,
"cds_start": 979,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891078.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile",
"transcript": "ENST00000891081.1",
"protein_id": "ENSP00000561140.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 359,
"cds_start": 979,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891081.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile",
"transcript": "ENST00000891082.1",
"protein_id": "ENSP00000561141.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 359,
"cds_start": 979,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891082.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile",
"transcript": "ENST00000891083.1",
"protein_id": "ENSP00000561142.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 359,
"cds_start": 979,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891083.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile",
"transcript": "ENST00000891084.1",
"protein_id": "ENSP00000561143.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 359,
"cds_start": 979,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891084.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile",
"transcript": "ENST00000918760.1",
"protein_id": "ENSP00000588819.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 359,
"cds_start": 979,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918760.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile",
"transcript": "ENST00000968021.1",
"protein_id": "ENSP00000638080.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 359,
"cds_start": 979,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968021.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile",
"transcript": "ENST00000968022.1",
"protein_id": "ENSP00000638081.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 359,
"cds_start": 979,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968022.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile",
"transcript": "ENST00000968025.1",
"protein_id": "ENSP00000638084.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 359,
"cds_start": 979,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968025.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"transcript": "NM_201543.4",
"protein_id": "NP_963837.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 317,
"cds_start": 853,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201543.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"transcript": "ENST00000526634.5",
"protein_id": "ENSP00000437040.1",
"transcript_support_level": 5,
"aa_start": 285,
"aa_end": null,
"aa_length": 317,
"cds_start": 853,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526634.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"transcript": "ENST00000891074.1",
"protein_id": "ENSP00000561133.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 317,
"cds_start": 853,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891074.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"transcript": "ENST00000891075.1",
"protein_id": "ENSP00000561134.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 317,
"cds_start": 853,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891075.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"transcript": "ENST00000891076.1",
"protein_id": "ENSP00000561135.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 317,
"cds_start": 853,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891076.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"transcript": "ENST00000891079.1",
"protein_id": "ENSP00000561138.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 317,
"cds_start": 853,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891079.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"transcript": "ENST00000891080.1",
"protein_id": "ENSP00000561139.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 317,
"cds_start": 853,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891080.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"transcript": "ENST00000968020.1",
"protein_id": "ENSP00000638079.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 317,
"cds_start": 853,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968020.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"transcript": "ENST00000968023.1",
"protein_id": "ENSP00000638082.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 317,
"cds_start": 853,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968023.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"transcript": "ENST00000968024.1",
"protein_id": "ENSP00000638083.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 317,
"cds_start": 853,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968024.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.802G>A",
"hgvs_p": "p.Val268Ile",
"transcript": "ENST00000416919.6",
"protein_id": "ENSP00000410843.2",
"transcript_support_level": 5,
"aa_start": 268,
"aa_end": null,
"aa_length": 300,
"cds_start": 802,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416919.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Val258Ile",
"transcript": "ENST00000323938.10",
"protein_id": "ENSP00000434860.1",
"transcript_support_level": 5,
"aa_start": 258,
"aa_end": null,
"aa_length": 290,
"cds_start": 772,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323938.10"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Val168Ile",
"transcript": "ENST00000918759.1",
"protein_id": "ENSP00000588818.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 200,
"cds_start": 502,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918759.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile",
"transcript": "XM_047420409.1",
"protein_id": "XP_047276365.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 359,
"cds_start": 979,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420409.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile",
"transcript": "XM_047420410.1",
"protein_id": "XP_047276366.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 359,
"cds_start": 979,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420410.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile",
"transcript": "XM_047420411.1",
"protein_id": "XP_047276367.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 359,
"cds_start": 979,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420411.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Val285Ile",
"transcript": "XM_047420416.1",
"protein_id": "XP_047276372.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 317,
"cds_start": 853,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420416.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "n.837G>A",
"hgvs_p": null,
"transcript": "ENST00000489586.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000489586.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "n.825G>A",
"hgvs_p": null,
"transcript": "ENST00000528259.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000528259.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000230325",
"gene_hgnc_id": null,
"hgvs_c": "n.141+2080C>T",
"hgvs_p": null,
"transcript": "ENST00000433131.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000433131.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.*2839G>A",
"hgvs_p": null,
"transcript": "XM_011544188.4",
"protein_id": "XP_011542490.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": null,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544188.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.*2839G>A",
"hgvs_p": null,
"transcript": "XM_017001274.3",
"protein_id": "XP_016856763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": null,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001274.3"
}
],
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"dbsnp": "rs747181971",
"frequency_reference_population": 0.0000266586,
"hom_count_reference_population": 0,
"allele_count_reference_population": 43,
"gnomad_exomes_af": 0.0000266977,
"gnomad_genomes_af": 0.0000262829,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11914590001106262,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.047,
"revel_prediction": "Benign",
"alphamissense_score": 0.0752,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.495,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006499.5",
"gene_symbol": "LGALS8",
"hgnc_id": 6569,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Val327Ile"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000433131.1",
"gene_symbol": "ENSG00000230325",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.141+2080C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}