← 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: 6-30731049-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30731049&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FLOT1",
"hgnc_id": 3757,
"hgvs_c": "c.775G>C",
"hgvs_p": "p.Val259Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_005803.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.5389,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.35085299611091614,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 427,
"aa_ref": "V",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1866,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1284,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_005803.4",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.775G>C",
"hgvs_p": "p.Val259Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376389.8",
"protein_coding": true,
"protein_id": "NP_005794.1",
"strand": false,
"transcript": "NM_005803.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 427,
"aa_ref": "V",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1866,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1284,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000376389.8",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.775G>C",
"hgvs_p": "p.Val259Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005803.4",
"protein_coding": true,
"protein_id": "ENSP00000365569.3",
"strand": false,
"transcript": "ENST00000376389.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 462,
"aa_ref": "V",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1879,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1389,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000903950.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.880G>C",
"hgvs_p": "p.Val294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574009.1",
"strand": false,
"transcript": "ENST00000903950.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 440,
"aa_ref": "V",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1786,
"cdna_start": 995,
"cds_end": null,
"cds_length": 1323,
"cds_start": 814,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000914089.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.814G>C",
"hgvs_p": "p.Val272Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584148.1",
"strand": false,
"transcript": "ENST00000914089.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 440,
"aa_ref": "V",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1717,
"cdna_start": 922,
"cds_end": null,
"cds_length": 1323,
"cds_start": 814,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000946582.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.814G>C",
"hgvs_p": "p.Val272Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616641.1",
"strand": false,
"transcript": "ENST00000946582.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 427,
"aa_ref": "V",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1630,
"cdna_start": 835,
"cds_end": null,
"cds_length": 1284,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000903944.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.775G>C",
"hgvs_p": "p.Val259Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574003.1",
"strand": false,
"transcript": "ENST00000903944.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 427,
"aa_ref": "V",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": 874,
"cds_end": null,
"cds_length": 1284,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000903945.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.775G>C",
"hgvs_p": "p.Val259Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574004.1",
"strand": false,
"transcript": "ENST00000903945.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 427,
"aa_ref": "V",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1817,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1284,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000903948.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.775G>C",
"hgvs_p": "p.Val259Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574007.1",
"strand": false,
"transcript": "ENST00000903948.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 427,
"aa_ref": "V",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1806,
"cdna_start": 1005,
"cds_end": null,
"cds_length": 1284,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000903949.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.775G>C",
"hgvs_p": "p.Val259Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574008.1",
"strand": false,
"transcript": "ENST00000903949.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 426,
"aa_ref": "V",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1715,
"cdna_start": 922,
"cds_end": null,
"cds_length": 1281,
"cds_start": 772,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000903959.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Val258Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574018.1",
"strand": false,
"transcript": "ENST00000903959.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 426,
"aa_ref": "V",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1668,
"cdna_start": 877,
"cds_end": null,
"cds_length": 1281,
"cds_start": 772,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000914092.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Val258Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584151.1",
"strand": false,
"transcript": "ENST00000914092.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 425,
"aa_ref": "V",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1757,
"cdna_start": 962,
"cds_end": null,
"cds_length": 1278,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000903953.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.769G>C",
"hgvs_p": "p.Val257Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574012.1",
"strand": false,
"transcript": "ENST00000903953.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 425,
"aa_ref": "V",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1652,
"cdna_start": 858,
"cds_end": null,
"cds_length": 1278,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000946577.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.769G>C",
"hgvs_p": "p.Val257Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616636.1",
"strand": false,
"transcript": "ENST00000946577.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 424,
"aa_ref": "V",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1731,
"cdna_start": 931,
"cds_end": null,
"cds_length": 1275,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000914090.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.766G>C",
"hgvs_p": "p.Val256Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584149.1",
"strand": false,
"transcript": "ENST00000914090.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1272,
"cds_start": 763,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000946579.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.763G>C",
"hgvs_p": "p.Val255Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616638.1",
"strand": false,
"transcript": "ENST00000946579.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 422,
"aa_ref": "V",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1758,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1269,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000903951.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.775G>C",
"hgvs_p": "p.Val259Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574010.1",
"strand": false,
"transcript": "ENST00000903951.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 419,
"aa_ref": "V",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1717,
"cdna_start": 924,
"cds_end": null,
"cds_length": 1260,
"cds_start": 751,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000903956.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.751G>C",
"hgvs_p": "p.Val251Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574015.1",
"strand": false,
"transcript": "ENST00000903956.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 415,
"aa_ref": "V",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 932,
"cds_end": null,
"cds_length": 1248,
"cds_start": 739,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000903952.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Val247Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574011.1",
"strand": false,
"transcript": "ENST00000903952.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "V",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1717,
"cdna_start": 923,
"cds_end": null,
"cds_length": 1239,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000903954.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.730G>C",
"hgvs_p": "p.Val244Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574013.1",
"strand": false,
"transcript": "ENST00000903954.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 411,
"aa_ref": "V",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1688,
"cdna_start": 896,
"cds_end": null,
"cds_length": 1236,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000946581.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.727G>C",
"hgvs_p": "p.Val243Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616640.1",
"strand": false,
"transcript": "ENST00000946581.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 394,
"aa_ref": "V",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1640,
"cdna_start": 842,
"cds_end": null,
"cds_length": 1185,
"cds_start": 676,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000903957.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.676G>C",
"hgvs_p": "p.Val226Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574016.1",
"strand": false,
"transcript": "ENST00000903957.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 381,
"aa_ref": "V",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1768,
"cdna_start": 1113,
"cds_end": null,
"cds_length": 1146,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000903947.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.775G>C",
"hgvs_p": "p.Val259Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574006.1",
"strand": false,
"transcript": "ENST00000903947.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 379,
"aa_ref": "V",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 806,
"cds_end": null,
"cds_length": 1140,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001318875.2",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.631G>C",
"hgvs_p": "p.Val211Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305804.1",
"strand": false,
"transcript": "NM_001318875.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 379,
"aa_ref": "V",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1903,
"cdna_start": 987,
"cds_end": null,
"cds_length": 1140,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000903946.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.631G>C",
"hgvs_p": "p.Val211Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574005.1",
"strand": false,
"transcript": "ENST00000903946.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 379,
"aa_ref": "V",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1616,
"cdna_start": 822,
"cds_end": null,
"cds_length": 1140,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000903958.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.631G>C",
"hgvs_p": "p.Val211Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574017.1",
"strand": false,
"transcript": "ENST00000903958.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 379,
"aa_ref": "V",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1486,
"cdna_start": 693,
"cds_end": null,
"cds_length": 1140,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000903960.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.631G>C",
"hgvs_p": "p.Val211Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574019.1",
"strand": false,
"transcript": "ENST00000903960.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 379,
"aa_ref": "V",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1533,
"cdna_start": 740,
"cds_end": null,
"cds_length": 1140,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000903961.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.631G>C",
"hgvs_p": "p.Val211Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574020.1",
"strand": false,
"transcript": "ENST00000903961.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 379,
"aa_ref": "V",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1547,
"cdna_start": 753,
"cds_end": null,
"cds_length": 1140,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000946578.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.631G>C",
"hgvs_p": "p.Val211Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616637.1",
"strand": false,
"transcript": "ENST00000946578.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 379,
"aa_ref": "V",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1523,
"cdna_start": 729,
"cds_end": null,
"cds_length": 1140,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000946583.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.631G>C",
"hgvs_p": "p.Val211Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616642.1",
"strand": false,
"transcript": "ENST00000946583.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 363,
"aa_ref": "V",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1435,
"cdna_start": 640,
"cds_end": null,
"cds_length": 1092,
"cds_start": 583,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000914091.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.583G>C",
"hgvs_p": "p.Val195Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584150.1",
"strand": false,
"transcript": "ENST00000914091.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 363,
"aa_ref": "V",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1606,
"cdna_start": 811,
"cds_end": null,
"cds_length": 1092,
"cds_start": 583,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000946580.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.583G>C",
"hgvs_p": "p.Val195Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616639.1",
"strand": false,
"transcript": "ENST00000946580.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 339,
"aa_ref": "V",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1487,
"cdna_start": 692,
"cds_end": null,
"cds_length": 1020,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000903955.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.511G>C",
"hgvs_p": "p.Val171Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574014.1",
"strand": false,
"transcript": "ENST00000903955.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 313,
"aa_ref": "V",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1502,
"cdna_start": 606,
"cds_end": null,
"cds_length": 942,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000914088.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.433G>C",
"hgvs_p": "p.Val145Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584147.1",
"strand": false,
"transcript": "ENST00000914088.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 427,
"aa_ref": "V",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1750,
"cdna_start": 834,
"cds_end": null,
"cds_length": 1284,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_005248780.4",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.775G>C",
"hgvs_p": "p.Val259Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005248837.1",
"strand": false,
"transcript": "XM_005248780.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1682,
"cdna_start": 766,
"cds_end": null,
"cds_length": 1272,
"cds_start": 763,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017010157.2",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.763G>C",
"hgvs_p": "p.Val255Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865646.1",
"strand": false,
"transcript": "XM_017010157.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 390,
"aa_ref": "V",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1583,
"cdna_start": 667,
"cds_end": null,
"cds_length": 1173,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017010158.2",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.664G>C",
"hgvs_p": "p.Val222Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865647.1",
"strand": false,
"transcript": "XM_017010158.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 374,
"aa_ref": "V",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1707,
"cdna_start": 791,
"cds_end": null,
"cds_length": 1125,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_006714947.4",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.616G>C",
"hgvs_p": "p.Val206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715010.1",
"strand": false,
"transcript": "XM_006714947.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 374,
"aa_ref": "V",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1591,
"cdna_start": 675,
"cds_end": null,
"cds_length": 1125,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047418064.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.616G>C",
"hgvs_p": "p.Val206Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274020.1",
"strand": false,
"transcript": "XM_047418064.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 856,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000413165.6",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "n.*491G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000395333.2",
"strand": false,
"transcript": "ENST00000413165.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 562,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000476729.5",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "n.504G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000476729.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1583,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000487376.5",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "n.476G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000487376.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 856,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000413165.6",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "n.*491G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000395333.2",
"strand": false,
"transcript": "ENST00000413165.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 251,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 888,
"cdna_start": null,
"cds_end": null,
"cds_length": 757,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000438162.5",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.*18G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400615.1",
"strand": true,
"transcript": "ENST00000438162.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs149283777",
"effect": "missense_variant",
"frequency_reference_population": 6.853549e-7,
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.85355e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.024,
"pos": 30731049,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.202,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_005803.4"
}
]
}