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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: 22-36506212-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=36506212&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 36506212,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024955.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"transcript": "NM_001102371.2",
"protein_id": "NP_001095841.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 684,
"cds_start": 211,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397224.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001102371.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"transcript": "ENST00000397224.9",
"protein_id": "ENSP00000380401.4",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 684,
"cds_start": 211,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001102371.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397224.9"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"transcript": "ENST00000216187.10",
"protein_id": "ENSP00000216187.6",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 684,
"cds_start": 211,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216187.10"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"transcript": "ENST00000397223.4",
"protein_id": "ENSP00000380400.4",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 684,
"cds_start": 211,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397223.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"transcript": "ENST00000862038.1",
"protein_id": "ENSP00000532097.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 765,
"cds_start": 211,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862038.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"transcript": "ENST00000946934.1",
"protein_id": "ENSP00000616993.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 685,
"cds_start": 211,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946934.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"transcript": "NM_001438722.1",
"protein_id": "NP_001425651.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 684,
"cds_start": 211,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438722.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"transcript": "NM_024955.6",
"protein_id": "NP_079231.4",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 684,
"cds_start": 211,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024955.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"transcript": "ENST00000684868.1",
"protein_id": "ENSP00000510800.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 684,
"cds_start": 211,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684868.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"transcript": "ENST00000686024.1",
"protein_id": "ENSP00000508760.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 676,
"cds_start": 211,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686024.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"transcript": "ENST00000689211.1",
"protein_id": "ENSP00000510330.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 676,
"cds_start": 211,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689211.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"transcript": "ENST00000692693.1",
"protein_id": "ENSP00000509182.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 676,
"cds_start": 211,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692693.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"transcript": "ENST00000687273.1",
"protein_id": "ENSP00000510722.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 597,
"cds_start": 211,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687273.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"transcript": "NM_001363041.2",
"protein_id": "NP_001349970.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 594,
"cds_start": 211,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363041.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"transcript": "NM_001363042.2",
"protein_id": "NP_001349971.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 594,
"cds_start": 211,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363042.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"transcript": "NM_001438724.1",
"protein_id": "NP_001425653.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 594,
"cds_start": 211,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438724.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"transcript": "ENST00000685224.1",
"protein_id": "ENSP00000508709.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 594,
"cds_start": 211,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685224.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"transcript": "ENST00000685612.1",
"protein_id": "ENSP00000508644.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 594,
"cds_start": 211,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685612.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"transcript": "ENST00000691242.1",
"protein_id": "ENSP00000509129.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 594,
"cds_start": 211,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691242.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"transcript": "ENST00000688825.1",
"protein_id": "ENSP00000510075.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 510,
"cds_start": 211,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688825.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"transcript": "ENST00000688870.1",
"protein_id": "ENSP00000510758.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 510,
"cds_start": 211,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688870.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser",
"transcript": "ENST00000920372.1",
"protein_id": "ENSP00000590431.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 510,
"cds_start": 211,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920372.1"
},
{
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{
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],
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"gene_symbol": "FOXRED2",
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"biotype": "retained_intron",
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{
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"protein_coding": false,
"strand": false,
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "FOXRED2",
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"biotype": "retained_intron",
"feature": "ENST00000686867.1"
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],
"gene_symbol": "FOXRED2",
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"dbsnp": "rs56767103",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136822,
"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": 0.2312333583831787,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.126,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.807,
"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": 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_024955.6",
"gene_symbol": "FOXRED2",
"hgnc_id": 26264,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.211C>A",
"hgvs_p": "p.Arg71Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}