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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: 1-236544907-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=236544907&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 236544907,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006499.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.796T>C",
"hgvs_p": "p.Tyr266His",
"transcript": "NM_201544.4",
"protein_id": "NP_963838.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 317,
"cds_start": 796,
"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": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.796T>C",
"hgvs_p": "p.Tyr266His",
"transcript": "ENST00000366584.9",
"protein_id": "ENSP00000355543.4",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 317,
"cds_start": 796,
"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": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.922T>C",
"hgvs_p": "p.Tyr308His",
"transcript": "ENST00000450372.6",
"protein_id": "ENSP00000408657.2",
"transcript_support_level": 1,
"aa_start": 308,
"aa_end": null,
"aa_length": 359,
"cds_start": 922,
"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": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.796T>C",
"hgvs_p": "p.Tyr266His",
"transcript": "ENST00000341872.10",
"protein_id": "ENSP00000342139.6",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 317,
"cds_start": 796,
"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": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.745T>C",
"hgvs_p": "p.Tyr249His",
"transcript": "ENST00000525042.1",
"protein_id": "ENSP00000431884.1",
"transcript_support_level": 1,
"aa_start": 249,
"aa_end": null,
"aa_length": 300,
"cds_start": 745,
"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": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.1021T>C",
"hgvs_p": "p.Tyr341His",
"transcript": "ENST00000891073.1",
"protein_id": "ENSP00000561132.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 392,
"cds_start": 1021,
"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": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.922T>C",
"hgvs_p": "p.Tyr308His",
"transcript": "NM_006499.5",
"protein_id": "NP_006490.3",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 359,
"cds_start": 922,
"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": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.922T>C",
"hgvs_p": "p.Tyr308His",
"transcript": "NM_201545.2",
"protein_id": "NP_963839.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 359,
"cds_start": 922,
"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": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.922T>C",
"hgvs_p": "p.Tyr308His",
"transcript": "ENST00000352231.6",
"protein_id": "ENSP00000309576.2",
"transcript_support_level": 2,
"aa_start": 308,
"aa_end": null,
"aa_length": 359,
"cds_start": 922,
"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": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.922T>C",
"hgvs_p": "p.Tyr308His",
"transcript": "ENST00000526589.5",
"protein_id": "ENSP00000435460.1",
"transcript_support_level": 5,
"aa_start": 308,
"aa_end": null,
"aa_length": 359,
"cds_start": 922,
"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": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.922T>C",
"hgvs_p": "p.Tyr308His",
"transcript": "ENST00000527974.5",
"protein_id": "ENSP00000431398.1",
"transcript_support_level": 5,
"aa_start": 308,
"aa_end": null,
"aa_length": 359,
"cds_start": 922,
"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": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.922T>C",
"hgvs_p": "p.Tyr308His",
"transcript": "ENST00000891071.1",
"protein_id": "ENSP00000561130.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 359,
"cds_start": 922,
"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": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.922T>C",
"hgvs_p": "p.Tyr308His",
"transcript": "ENST00000891072.1",
"protein_id": "ENSP00000561131.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 359,
"cds_start": 922,
"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": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.922T>C",
"hgvs_p": "p.Tyr308His",
"transcript": "ENST00000891077.1",
"protein_id": "ENSP00000561136.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 359,
"cds_start": 922,
"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": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.922T>C",
"hgvs_p": "p.Tyr308His",
"transcript": "ENST00000891078.1",
"protein_id": "ENSP00000561137.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 359,
"cds_start": 922,
"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": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.922T>C",
"hgvs_p": "p.Tyr308His",
"transcript": "ENST00000891081.1",
"protein_id": "ENSP00000561140.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 359,
"cds_start": 922,
"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": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.922T>C",
"hgvs_p": "p.Tyr308His",
"transcript": "ENST00000891082.1",
"protein_id": "ENSP00000561141.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 359,
"cds_start": 922,
"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": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.922T>C",
"hgvs_p": "p.Tyr308His",
"transcript": "ENST00000891083.1",
"protein_id": "ENSP00000561142.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 359,
"cds_start": 922,
"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": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.922T>C",
"hgvs_p": "p.Tyr308His",
"transcript": "ENST00000891084.1",
"protein_id": "ENSP00000561143.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 359,
"cds_start": 922,
"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": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.922T>C",
"hgvs_p": "p.Tyr308His",
"transcript": "ENST00000918760.1",
"protein_id": "ENSP00000588819.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 359,
"cds_start": 922,
"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": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.922T>C",
"hgvs_p": "p.Tyr308His",
"transcript": "ENST00000968021.1",
"protein_id": "ENSP00000638080.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 359,
"cds_start": 922,
"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": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.922T>C",
"hgvs_p": "p.Tyr308His",
"transcript": "ENST00000968022.1",
"protein_id": "ENSP00000638081.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 359,
"cds_start": 922,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"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.142-4461A>G",
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.*92T>C",
"hgvs_p": null,
"transcript": "ENST00000238181.11",
"protein_id": "ENSP00000238181.7",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": null,
"cds_end": null,
"cds_length": 527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000238181.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "n.*59T>C",
"hgvs_p": null,
"transcript": "ENST00000532640.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000532640.1"
}
],
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"dbsnp": "rs1328598391",
"frequency_reference_population": 0.0000013766671,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137667,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7397274971008301,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.306,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7581,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.194,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006499.5",
"gene_symbol": "LGALS8",
"hgnc_id": 6569,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.922T>C",
"hgvs_p": "p.Tyr308His"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000433131.1",
"gene_symbol": "ENSG00000230325",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.142-4461A>G",
"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
}