← 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: 6-30730962-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30730962&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30730962,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005803.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Glu288Lys",
"transcript": "NM_005803.4",
"protein_id": "NP_005794.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 427,
"cds_start": 862,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376389.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005803.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Glu288Lys",
"transcript": "ENST00000376389.8",
"protein_id": "ENSP00000365569.3",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 427,
"cds_start": 862,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005803.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376389.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Glu323Lys",
"transcript": "ENST00000903950.1",
"protein_id": "ENSP00000574009.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 462,
"cds_start": 967,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903950.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Glu301Lys",
"transcript": "ENST00000914089.1",
"protein_id": "ENSP00000584148.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 440,
"cds_start": 901,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914089.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Glu301Lys",
"transcript": "ENST00000946582.1",
"protein_id": "ENSP00000616641.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 440,
"cds_start": 901,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946582.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Glu288Lys",
"transcript": "ENST00000903944.1",
"protein_id": "ENSP00000574003.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 427,
"cds_start": 862,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903944.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Glu288Lys",
"transcript": "ENST00000903945.1",
"protein_id": "ENSP00000574004.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 427,
"cds_start": 862,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903945.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Glu288Lys",
"transcript": "ENST00000903948.1",
"protein_id": "ENSP00000574007.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 427,
"cds_start": 862,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903948.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Glu288Lys",
"transcript": "ENST00000903949.1",
"protein_id": "ENSP00000574008.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 427,
"cds_start": 862,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903949.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Glu287Lys",
"transcript": "ENST00000903959.1",
"protein_id": "ENSP00000574018.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 426,
"cds_start": 859,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903959.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Glu287Lys",
"transcript": "ENST00000914092.1",
"protein_id": "ENSP00000584151.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 426,
"cds_start": 859,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914092.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Glu286Lys",
"transcript": "ENST00000903953.1",
"protein_id": "ENSP00000574012.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 425,
"cds_start": 856,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903953.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Glu286Lys",
"transcript": "ENST00000946577.1",
"protein_id": "ENSP00000616636.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 425,
"cds_start": 856,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946577.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Glu285Lys",
"transcript": "ENST00000914090.1",
"protein_id": "ENSP00000584149.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 424,
"cds_start": 853,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914090.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Glu284Lys",
"transcript": "ENST00000946579.1",
"protein_id": "ENSP00000616638.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 423,
"cds_start": 850,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946579.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Glu288Lys",
"transcript": "ENST00000903951.1",
"protein_id": "ENSP00000574010.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 422,
"cds_start": 862,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903951.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.838G>A",
"hgvs_p": "p.Glu280Lys",
"transcript": "ENST00000903956.1",
"protein_id": "ENSP00000574015.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 419,
"cds_start": 838,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903956.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Glu276Lys",
"transcript": "ENST00000903952.1",
"protein_id": "ENSP00000574011.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 415,
"cds_start": 826,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903952.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.817G>A",
"hgvs_p": "p.Glu273Lys",
"transcript": "ENST00000903954.1",
"protein_id": "ENSP00000574013.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 412,
"cds_start": 817,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903954.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.814G>A",
"hgvs_p": "p.Glu272Lys",
"transcript": "ENST00000946581.1",
"protein_id": "ENSP00000616640.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 411,
"cds_start": 814,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946581.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Glu255Lys",
"transcript": "ENST00000903957.1",
"protein_id": "ENSP00000574016.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 394,
"cds_start": 763,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903957.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Glu288Lys",
"transcript": "ENST00000903947.1",
"protein_id": "ENSP00000574006.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 381,
"cds_start": 862,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903947.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Glu240Lys",
"transcript": "NM_001318875.2",
"protein_id": "NP_001305804.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 379,
"cds_start": 718,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318875.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Glu240Lys",
"transcript": "ENST00000903946.1",
"protein_id": "ENSP00000574005.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 379,
"cds_start": 718,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903946.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Glu240Lys",
"transcript": "ENST00000903958.1",
"protein_id": "ENSP00000574017.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 379,
"cds_start": 718,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903958.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Glu240Lys",
"transcript": "ENST00000903960.1",
"protein_id": "ENSP00000574019.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 379,
"cds_start": 718,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903960.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Glu240Lys",
"transcript": "ENST00000903961.1",
"protein_id": "ENSP00000574020.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 379,
"cds_start": 718,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903961.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Glu240Lys",
"transcript": "ENST00000946578.1",
"protein_id": "ENSP00000616637.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 379,
"cds_start": 718,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946578.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Glu240Lys",
"transcript": "ENST00000946583.1",
"protein_id": "ENSP00000616642.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 379,
"cds_start": 718,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946583.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Glu224Lys",
"transcript": "ENST00000914091.1",
"protein_id": "ENSP00000584150.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 363,
"cds_start": 670,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914091.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Glu224Lys",
"transcript": "ENST00000946580.1",
"protein_id": "ENSP00000616639.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 363,
"cds_start": 670,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946580.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Glu200Lys",
"transcript": "ENST00000903955.1",
"protein_id": "ENSP00000574014.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 339,
"cds_start": 598,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903955.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "ENST00000914088.1",
"protein_id": "ENSP00000584147.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 313,
"cds_start": 520,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914088.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Glu288Lys",
"transcript": "XM_005248780.4",
"protein_id": "XP_005248837.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 427,
"cds_start": 862,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248780.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Glu284Lys",
"transcript": "XM_017010157.2",
"protein_id": "XP_016865646.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 423,
"cds_start": 850,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010157.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Glu251Lys",
"transcript": "XM_017010158.2",
"protein_id": "XP_016865647.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 390,
"cds_start": 751,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010158.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.703G>A",
"hgvs_p": "p.Glu235Lys",
"transcript": "XM_006714947.4",
"protein_id": "XP_006715010.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 374,
"cds_start": 703,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714947.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.703G>A",
"hgvs_p": "p.Glu235Lys",
"transcript": "XM_047418064.1",
"protein_id": "XP_047274020.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 374,
"cds_start": 703,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418064.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "n.*578G>A",
"hgvs_p": null,
"transcript": "ENST00000413165.6",
"protein_id": "ENSP00000395333.2",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000413165.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "n.563G>A",
"hgvs_p": null,
"transcript": "ENST00000487376.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000487376.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "n.*578G>A",
"hgvs_p": null,
"transcript": "ENST00000413165.6",
"protein_id": "ENSP00000395333.2",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000413165.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.*105G>A",
"hgvs_p": null,
"transcript": "ENST00000438162.5",
"protein_id": "ENSP00000400615.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438162.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "n.*29G>A",
"hgvs_p": null,
"transcript": "ENST00000476729.5",
"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": "retained_intron",
"feature": "ENST00000476729.5"
}
],
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"dbsnp": "rs891200138",
"frequency_reference_population": 0.0000012392634,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84163e-7,
"gnomad_genomes_af": 0.00000656935,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4582550525665283,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.25,
"revel_prediction": "Benign",
"alphamissense_score": 0.3952,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.032,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005803.4",
"gene_symbol": "FLOT1",
"hgnc_id": 3757,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Glu288Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}