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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: 6-30740497-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30740497&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30740497,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_005803.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"transcript": "NM_005803.4",
"protein_id": "NP_005794.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 427,
"cds_start": 569,
"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": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"transcript": "ENST00000376389.8",
"protein_id": "ENSP00000365569.3",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 427,
"cds_start": 569,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"transcript": "ENST00000445853.5",
"protein_id": "ENSP00000398834.1",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 234,
"cds_start": 569,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445853.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Arg225Gln",
"transcript": "ENST00000903950.1",
"protein_id": "ENSP00000574009.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 462,
"cds_start": 674,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Gln",
"transcript": "ENST00000914089.1",
"protein_id": "ENSP00000584148.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 440,
"cds_start": 608,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203Gln",
"transcript": "ENST00000946582.1",
"protein_id": "ENSP00000616641.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 440,
"cds_start": 608,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"transcript": "ENST00000903944.1",
"protein_id": "ENSP00000574003.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 427,
"cds_start": 569,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"transcript": "ENST00000903945.1",
"protein_id": "ENSP00000574004.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 427,
"cds_start": 569,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"transcript": "ENST00000903948.1",
"protein_id": "ENSP00000574007.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 427,
"cds_start": 569,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"transcript": "ENST00000903949.1",
"protein_id": "ENSP00000574008.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 427,
"cds_start": 569,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189Gln",
"transcript": "ENST00000903959.1",
"protein_id": "ENSP00000574018.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 426,
"cds_start": 566,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.566G>A",
"hgvs_p": "p.Arg189Gln",
"transcript": "ENST00000914092.1",
"protein_id": "ENSP00000584151.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 426,
"cds_start": 566,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.563G>A",
"hgvs_p": "p.Arg188Gln",
"transcript": "ENST00000903953.1",
"protein_id": "ENSP00000574012.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 425,
"cds_start": 563,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.563G>A",
"hgvs_p": "p.Arg188Gln",
"transcript": "ENST00000946577.1",
"protein_id": "ENSP00000616636.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 425,
"cds_start": 563,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"transcript": "ENST00000914090.1",
"protein_id": "ENSP00000584149.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 424,
"cds_start": 569,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.557G>A",
"hgvs_p": "p.Arg186Gln",
"transcript": "ENST00000946579.1",
"protein_id": "ENSP00000616638.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 423,
"cds_start": 557,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"transcript": "ENST00000903951.1",
"protein_id": "ENSP00000574010.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 422,
"cds_start": 569,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Arg182Gln",
"transcript": "ENST00000903956.1",
"protein_id": "ENSP00000574015.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 419,
"cds_start": 545,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Gln",
"transcript": "ENST00000903952.1",
"protein_id": "ENSP00000574011.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 415,
"cds_start": 533,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"transcript": "ENST00000903954.1",
"protein_id": "ENSP00000574013.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 412,
"cds_start": 569,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.521G>A",
"hgvs_p": "p.Arg174Gln",
"transcript": "ENST00000946581.1",
"protein_id": "ENSP00000616640.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 411,
"cds_start": 521,
"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": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000470643.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "n.298G>A",
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"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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "n.1043G>A",
"hgvs_p": null,
"transcript": "ENST00000484168.1",
"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": "ENST00000484168.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "n.270G>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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "n.*285G>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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"hgvs_c": "c.*12G>A",
"hgvs_p": null,
"transcript": "ENST00000454845.1",
"protein_id": "ENSP00000391341.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": null,
"cds_end": null,
"cds_length": 557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454845.1"
}
],
"gene_symbol": "FLOT1",
"gene_hgnc_id": 3757,
"dbsnp": "rs754804649",
"frequency_reference_population": 0.00006201966,
"hom_count_reference_population": 0,
"allele_count_reference_population": 100,
"gnomad_exomes_af": 0.0000623232,
"gnomad_genomes_af": 0.0000591086,
"gnomad_exomes_ac": 91,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18395259976387024,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5720000267028809,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.201,
"revel_prediction": "Benign",
"alphamissense_score": 0.0811,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.844,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.939830810826487,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_005803.4",
"gene_symbol": "FLOT1",
"hgnc_id": 3757,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln"
}
],
"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
}