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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: 14-75641008-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=75641008&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 75641008,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017791.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.1289C>T",
"hgvs_p": "p.Thr430Met",
"transcript": "NM_017791.3",
"protein_id": "NP_060261.2",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 526,
"cds_start": 1289,
"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": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.1289C>T",
"hgvs_p": "p.Thr430Met",
"transcript": "ENST00000238667.9",
"protein_id": "ENSP00000238667.4",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 526,
"cds_start": 1289,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.1343C>T",
"hgvs_p": "p.Thr448Met",
"transcript": "ENST00000852195.1",
"protein_id": "ENSP00000522253.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 544,
"cds_start": 1343,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.1259C>T",
"hgvs_p": "p.Thr420Met",
"transcript": "ENST00000852190.1",
"protein_id": "ENSP00000522250.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 516,
"cds_start": 1259,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.1289C>T",
"hgvs_p": "p.Thr430Met",
"transcript": "ENST00000943497.1",
"protein_id": "ENSP00000613556.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 516,
"cds_start": 1289,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.1178C>T",
"hgvs_p": "p.Thr393Met",
"transcript": "ENST00000852184.1",
"protein_id": "ENSP00000522243.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 489,
"cds_start": 1178,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.1172C>T",
"hgvs_p": "p.Thr391Met",
"transcript": "ENST00000943496.1",
"protein_id": "ENSP00000613555.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 487,
"cds_start": 1172,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.1148C>T",
"hgvs_p": "p.Thr383Met",
"transcript": "ENST00000852182.1",
"protein_id": "ENSP00000522242.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 479,
"cds_start": 1148,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.1037C>T",
"hgvs_p": "p.Thr346Met",
"transcript": "ENST00000852188.1",
"protein_id": "ENSP00000522247.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 442,
"cds_start": 1037,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.857C>T",
"hgvs_p": "p.Thr286Met",
"transcript": "ENST00000852186.1",
"protein_id": "ENSP00000522245.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 382,
"cds_start": 857,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.746C>T",
"hgvs_p": "p.Thr249Met",
"transcript": "ENST00000852192.1",
"protein_id": "ENSP00000522252.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 345,
"cds_start": 746,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.674C>T",
"hgvs_p": "p.Thr225Met",
"transcript": "NM_001195283.2",
"protein_id": "NP_001182212.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 321,
"cds_start": 674,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.674C>T",
"hgvs_p": "p.Thr225Met",
"transcript": "ENST00000539311.5",
"protein_id": "ENSP00000443439.1",
"transcript_support_level": 2,
"aa_start": 225,
"aa_end": null,
"aa_length": 321,
"cds_start": 674,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.434C>T",
"hgvs_p": "p.Thr145Met",
"transcript": "ENST00000555027.1",
"protein_id": "ENSP00000452453.1",
"transcript_support_level": 3,
"aa_start": 145,
"aa_end": null,
"aa_length": 241,
"cds_start": 434,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Thr131Met",
"transcript": "ENST00000553341.5",
"protein_id": "ENSP00000452584.1",
"transcript_support_level": 5,
"aa_start": 131,
"aa_end": null,
"aa_length": 202,
"cds_start": 392,
"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": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Thr130Met",
"transcript": "ENST00000554580.5",
"protein_id": "ENSP00000451781.1",
"transcript_support_level": 3,
"aa_start": 130,
"aa_end": null,
"aa_length": 202,
"cds_start": 389,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "c.368+5995C>T",
"hgvs_p": null,
"transcript": "ENST00000553587.5",
"protein_id": "ENSP00000451603.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 133,
"cds_start": null,
"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": 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.197-5393C>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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "n.277C>T",
"hgvs_p": null,
"transcript": "ENST00000556745.1",
"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": "ENST00000556745.1"
},
{
"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": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "n.72+7312C>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": [
"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.187-5393C>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.59-22047C>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": 3,
"intron_rank_end": null,
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"hgvs_c": "n.408+5995C>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"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTLL5",
"gene_hgnc_id": 19963,
"hgvs_c": "n.176+5995C>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"
}
],
"gene_symbol": "FLVCR2",
"gene_hgnc_id": 20105,
"dbsnp": "rs267606825",
"frequency_reference_population": 0.000039654264,
"hom_count_reference_population": 0,
"allele_count_reference_population": 64,
"gnomad_exomes_af": 0.0000403617,
"gnomad_genomes_af": 0.0000328584,
"gnomad_exomes_ac": 59,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8730452060699463,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.624,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7061,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_017791.3",
"gene_symbol": "FLVCR2",
"hgnc_id": 20105,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1289C>T",
"hgvs_p": "p.Thr430Met"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000556265.5",
"gene_symbol": "TTLL5",
"hgnc_id": 19963,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "n.176+5995C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Fowler syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Fowler syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}