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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: 14-75633695-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=75633695&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 75633695,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_017791.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.1019C>T",
"hgvs_p": "p.Pro340Leu",
"transcript": "NM_017791.3",
"protein_id": "NP_060261.2",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 526,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000238667.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017791.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.1019C>T",
"hgvs_p": "p.Pro340Leu",
"transcript": "ENST00000238667.9",
"protein_id": "ENSP00000238667.4",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 526,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017791.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000238667.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Pro358Leu",
"transcript": "ENST00000852195.1",
"protein_id": "ENSP00000522253.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 544,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852195.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.989C>T",
"hgvs_p": "p.Pro330Leu",
"transcript": "ENST00000852190.1",
"protein_id": "ENSP00000522250.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 516,
"cds_start": 989,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852190.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.1019C>T",
"hgvs_p": "p.Pro340Leu",
"transcript": "ENST00000943497.1",
"protein_id": "ENSP00000613556.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 516,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943497.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.1019C>T",
"hgvs_p": "p.Pro340Leu",
"transcript": "ENST00000852184.1",
"protein_id": "ENSP00000522243.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 489,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852184.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Pro293Leu",
"transcript": "ENST00000852182.1",
"protein_id": "ENSP00000522242.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 479,
"cds_start": 878,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852182.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.878C>T",
"hgvs_p": "p.Pro293Leu",
"transcript": "ENST00000852188.1",
"protein_id": "ENSP00000522247.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 442,
"cds_start": 878,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852188.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Pro196Leu",
"transcript": "ENST00000852186.1",
"protein_id": "ENSP00000522245.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 382,
"cds_start": 587,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852186.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Pro196Leu",
"transcript": "ENST00000852192.1",
"protein_id": "ENSP00000522252.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 345,
"cds_start": 587,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852192.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Pro135Leu",
"transcript": "NM_001195283.2",
"protein_id": "NP_001182212.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 321,
"cds_start": 404,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195283.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Pro135Leu",
"transcript": "ENST00000539311.5",
"protein_id": "ENSP00000443439.1",
"transcript_support_level": 2,
"aa_start": 135,
"aa_end": null,
"aa_length": 321,
"cds_start": 404,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539311.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Pro55Leu",
"transcript": "ENST00000555027.1",
"protein_id": "ENSP00000452453.1",
"transcript_support_level": 3,
"aa_start": 55,
"aa_end": null,
"aa_length": 241,
"cds_start": 164,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555027.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Pro41Leu",
"transcript": "ENST00000553341.5",
"protein_id": "ENSP00000452584.1",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 202,
"cds_start": 122,
"cds_end": null,
"cds_length": 611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553341.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.119C>T",
"hgvs_p": "p.Pro40Leu",
"transcript": "ENST00000554580.5",
"protein_id": "ENSP00000451781.1",
"transcript_support_level": 3,
"aa_start": 40,
"aa_end": null,
"aa_length": 202,
"cds_start": 119,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554580.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Pro88Leu",
"transcript": "ENST00000553587.5",
"protein_id": "ENSP00000451603.1",
"transcript_support_level": 2,
"aa_start": 88,
"aa_end": null,
"aa_length": 133,
"cds_start": 263,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553587.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Pro88Leu",
"transcript": "ENST00000555058.5",
"protein_id": "ENSP00000451104.1",
"transcript_support_level": 5,
"aa_start": 88,
"aa_end": null,
"aa_length": 87,
"cds_start": 263,
"cds_end": null,
"cds_length": 265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555058.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.953-1264C>T",
"hgvs_p": null,
"transcript": "ENST00000943496.1",
"protein_id": "ENSP00000613555.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": null,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943496.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.196+8943C>T",
"hgvs_p": null,
"transcript": "ENST00000556856.1",
"protein_id": "ENSP00000452468.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": null,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556856.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "n.71C>T",
"hgvs_p": null,
"transcript": "ENST00000554132.1",
"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": "ENST00000554132.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "n.71C>T",
"hgvs_p": null,
"transcript": "ENST00000556265.5",
"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": "pseudogene",
"feature": "ENST00000556265.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "n.393C>T",
"hgvs_p": null,
"transcript": "ENST00000556409.1",
"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": "retained_intron",
"feature": "ENST00000556409.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "n.187-12706C>T",
"hgvs_p": null,
"transcript": "ENST00000554496.1",
"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": "ENST00000554496.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "n.59-29360C>T",
"hgvs_p": null,
"transcript": "ENST00000555385.1",
"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": "pseudogene",
"feature": "ENST00000555385.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "n.305-1215C>T",
"hgvs_p": null,
"transcript": "ENST00000556241.5",
"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": "ENST00000556241.5"
}
],
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"dbsnp": "rs750773606",
"frequency_reference_population": 0.000029791645,
"hom_count_reference_population": 0,
"allele_count_reference_population": 48,
"gnomad_exomes_af": 0.0000294723,
"gnomad_genomes_af": 0.0000328528,
"gnomad_exomes_ac": 43,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.759822428226471,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8519999980926514,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.474,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2627,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.825,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.98999448905355,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3,PP5,BS1_Supporting",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PP3",
"PP5",
"BS1_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017791.3",
"gene_symbol": "FLVCR2",
"hgnc_id": 20105,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1019C>T",
"hgvs_p": "p.Pro340Leu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000556265.5",
"gene_symbol": "TTLL5",
"hgnc_id": 19963,
"effects": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "n.71C>T",
"hgvs_p": null
}
],
"clinvar_disease": "FLVCR2-related disorder,Fowler syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:2",
"phenotype_combined": "Fowler syndrome|not provided|FLVCR2-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}