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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: 16-31473917-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=31473917&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 31473917,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001042454.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Arg",
"transcript": "NM_001042454.3",
"protein_id": "NP_001035919.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 461,
"cds_start": 265,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394863.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042454.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Arg",
"transcript": "ENST00000394863.8",
"protein_id": "ENSP00000378332.3",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 461,
"cds_start": 265,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042454.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394863.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Gly72Arg",
"transcript": "ENST00000361773.7",
"protein_id": "ENSP00000355117.3",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 444,
"cds_start": 214,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361773.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Gly72Arg",
"transcript": "ENST00000394858.6",
"protein_id": "ENSP00000378327.2",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 444,
"cds_start": 214,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394858.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Gly72Arg",
"transcript": "ENST00000567607.5",
"protein_id": "ENSP00000457586.1",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 444,
"cds_start": 214,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567607.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Arg",
"transcript": "ENST00000902093.1",
"protein_id": "ENSP00000572152.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 460,
"cds_start": 265,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902093.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Arg",
"transcript": "ENST00000965084.1",
"protein_id": "ENSP00000635143.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 458,
"cds_start": 265,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965084.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Gly72Arg",
"transcript": "NM_001164719.1",
"protein_id": "NP_001158191.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 444,
"cds_start": 214,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164719.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Gly72Arg",
"transcript": "NM_015927.5",
"protein_id": "NP_057011.2",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 444,
"cds_start": 214,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015927.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Gly67Arg",
"transcript": "ENST00000965083.1",
"protein_id": "ENSP00000635142.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 439,
"cds_start": 199,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965083.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Arg",
"transcript": "ENST00000965085.1",
"protein_id": "ENSP00000635144.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 407,
"cds_start": 265,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965085.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Arg",
"transcript": "ENST00000902094.1",
"protein_id": "ENSP00000572153.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 396,
"cds_start": 265,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902094.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Gly67Arg",
"transcript": "ENST00000565360.5",
"protein_id": "ENSP00000455709.1",
"transcript_support_level": 3,
"aa_start": 67,
"aa_end": null,
"aa_length": 215,
"cds_start": 199,
"cds_end": null,
"cds_length": 650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565360.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Gly72Arg",
"transcript": "ENST00000565454.5",
"protein_id": "ENSP00000456783.1",
"transcript_support_level": 4,
"aa_start": 72,
"aa_end": null,
"aa_length": 164,
"cds_start": 214,
"cds_end": null,
"cds_length": 496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565454.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Gly72Arg",
"transcript": "ENST00000562566.5",
"protein_id": "ENSP00000456482.1",
"transcript_support_level": 4,
"aa_start": 72,
"aa_end": null,
"aa_length": 88,
"cds_start": 214,
"cds_end": null,
"cds_length": 269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562566.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "c.214G>A",
"hgvs_p": "p.Gly72Arg",
"transcript": "XM_024450412.2",
"protein_id": "XP_024306180.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 444,
"cds_start": 214,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450412.2"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "c.129+361G>A",
"hgvs_p": null,
"transcript": "ENST00000965082.1",
"protein_id": "ENSP00000635141.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": null,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965082.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "n.399G>A",
"hgvs_p": null,
"transcript": "ENST00000561785.5",
"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": "retained_intron",
"feature": "ENST00000561785.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "n.283G>A",
"hgvs_p": null,
"transcript": "ENST00000562165.5",
"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": "retained_intron",
"feature": "ENST00000562165.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "n.1622G>A",
"hgvs_p": null,
"transcript": "ENST00000564176.5",
"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": "ENST00000564176.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "n.214G>A",
"hgvs_p": null,
"transcript": "ENST00000564804.1",
"protein_id": "ENSP00000454688.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000564804.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "n.149G>A",
"hgvs_p": null,
"transcript": "ENST00000567066.6",
"protein_id": "ENSP00000456341.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000567066.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "n.538G>A",
"hgvs_p": null,
"transcript": "ENST00000567524.1",
"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": "retained_intron",
"feature": "ENST00000567524.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "n.259G>A",
"hgvs_p": null,
"transcript": "ENST00000568142.2",
"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": "ENST00000568142.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "n.422G>A",
"hgvs_p": null,
"transcript": "ENST00000569254.5",
"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": "retained_intron",
"feature": "ENST00000569254.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "n.279G>A",
"hgvs_p": null,
"transcript": "ENST00000569703.5",
"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": "ENST00000569703.5"
},
{
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"hgvs_c": "n.182+183G>A",
"hgvs_p": null,
"transcript": "ENST00000563712.6",
"protein_id": "ENSP00000459283.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000563712.6"
}
],
"gene_symbol": "TGFB1I1",
"gene_hgnc_id": 11767,
"dbsnp": "rs558788092",
"frequency_reference_population": 0.000006814977,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000684071,
"gnomad_genomes_af": 0.00000656789,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.32810139656066895,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.138,
"revel_prediction": "Benign",
"alphamissense_score": 0.913,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.217,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001042454.3",
"gene_symbol": "TGFB1I1",
"hgnc_id": 11767,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Arg"
}
],
"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
}