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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: 8-12185414-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=12185414&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 12185414,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001083537.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM86B1",
"gene_hgnc_id": 28268,
"hgvs_c": "c.752G>A",
"hgvs_p": "p.Arg251His",
"transcript": "NM_001083537.4",
"protein_id": "NP_001077006.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 296,
"cds_start": 752,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000448228.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083537.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM86B1",
"gene_hgnc_id": 28268,
"hgvs_c": "c.752G>A",
"hgvs_p": "p.Arg251His",
"transcript": "ENST00000448228.7",
"protein_id": "ENSP00000407067.2",
"transcript_support_level": 5,
"aa_start": 251,
"aa_end": null,
"aa_length": 296,
"cds_start": 752,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001083537.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448228.7"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM86B1",
"gene_hgnc_id": 28268,
"hgvs_c": "n.*302G>A",
"hgvs_p": null,
"transcript": "ENST00000524893.5",
"protein_id": "ENSP00000436024.1",
"transcript_support_level": 1,
"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": "ENST00000524893.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM86B1",
"gene_hgnc_id": 28268,
"hgvs_c": "n.*302G>A",
"hgvs_p": null,
"transcript": "ENST00000524893.5",
"protein_id": "ENSP00000436024.1",
"transcript_support_level": 1,
"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": "ENST00000524893.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM86B1",
"gene_hgnc_id": 28268,
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285His",
"transcript": "ENST00000533852.7",
"protein_id": "ENSP00000432931.1",
"transcript_support_level": 5,
"aa_start": 285,
"aa_end": null,
"aa_length": 330,
"cds_start": 854,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533852.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM86B1",
"gene_hgnc_id": 28268,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275His",
"transcript": "ENST00000955278.1",
"protein_id": "ENSP00000625337.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 320,
"cds_start": 824,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955278.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM86B1",
"gene_hgnc_id": 28268,
"hgvs_c": "c.440G>A",
"hgvs_p": "p.Arg147His",
"transcript": "ENST00000922474.1",
"protein_id": "ENSP00000592533.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 192,
"cds_start": 440,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922474.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM86B1",
"gene_hgnc_id": 28268,
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285His",
"transcript": "XM_006716256.5",
"protein_id": "XP_006716319.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 330,
"cds_start": 854,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716256.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM86B1",
"gene_hgnc_id": 28268,
"hgvs_c": "c.773G>A",
"hgvs_p": "p.Arg258His",
"transcript": "XM_006716257.5",
"protein_id": "XP_006716320.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 330,
"cds_start": 773,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716257.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM86B1",
"gene_hgnc_id": 28268,
"hgvs_c": "c.752G>A",
"hgvs_p": "p.Arg251His",
"transcript": "XM_017013916.3",
"protein_id": "XP_016869405.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 323,
"cds_start": 752,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013916.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM86B1",
"gene_hgnc_id": 28268,
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Arg230His",
"transcript": "XM_047422354.1",
"protein_id": "XP_047278310.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 302,
"cds_start": 689,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422354.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM86B1",
"gene_hgnc_id": 28268,
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Arg230His",
"transcript": "XM_047422355.1",
"protein_id": "XP_047278311.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 302,
"cds_start": 689,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422355.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM86B1",
"gene_hgnc_id": 28268,
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Arg230His",
"transcript": "XM_047422356.1",
"protein_id": "XP_047278312.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 302,
"cds_start": 689,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422356.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM86B1",
"gene_hgnc_id": 28268,
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Arg230His",
"transcript": "XM_047422357.1",
"protein_id": "XP_047278313.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 302,
"cds_start": 689,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422357.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM86B1",
"gene_hgnc_id": 28268,
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Arg230His",
"transcript": "XM_047422358.1",
"protein_id": "XP_047278314.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 302,
"cds_start": 689,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422358.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM86B1",
"gene_hgnc_id": 28268,
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Arg230His",
"transcript": "XM_047422359.1",
"protein_id": "XP_047278315.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 302,
"cds_start": 689,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422359.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM86B1",
"gene_hgnc_id": 28268,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"transcript": "XM_017013917.3",
"protein_id": "XP_016869406.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 296,
"cds_start": 671,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013917.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM86B1",
"gene_hgnc_id": 28268,
"hgvs_c": "c.641G>A",
"hgvs_p": "p.Arg214His",
"transcript": "XM_017013918.3",
"protein_id": "XP_016869407.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 286,
"cds_start": 641,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013918.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM86B1",
"gene_hgnc_id": 28268,
"hgvs_c": "c.629G>A",
"hgvs_p": "p.Arg210His",
"transcript": "XM_011543842.4",
"protein_id": "XP_011542144.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 282,
"cds_start": 629,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543842.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM86B1",
"gene_hgnc_id": 28268,
"hgvs_c": "c.629G>A",
"hgvs_p": "p.Arg210His",
"transcript": "XM_024447313.2",
"protein_id": "XP_024303081.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 282,
"cds_start": 629,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447313.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM86B1",
"gene_hgnc_id": 28268,
"hgvs_c": "c.629G>A",
"hgvs_p": "p.Arg210His",
"transcript": "XM_024447314.2",
"protein_id": "XP_024303082.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 282,
"cds_start": 629,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447314.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM86B1",
"gene_hgnc_id": 28268,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"transcript": "XM_006716260.5",
"protein_id": "XP_006716323.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 269,
"cds_start": 671,
"cds_end": null,
"cds_length": 810,
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"feature": "ENST00000530385.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "FAM86B1",
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"hgvs_c": "n.*383G>A",
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"transcript": "ENST00000534187.6",
"protein_id": "ENSP00000473414.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000534187.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
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"gene_symbol": "FAM66D",
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"hgvs_c": "n.764+7897C>T",
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"transcript": "ENST00000715433.1",
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"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,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000715433.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "FAM86B1",
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"hgvs_c": "n.*41G>A",
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"transcript": "ENST00000529617.5",
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"transcript_support_level": 5,
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"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": "ENST00000529617.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM86B1",
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"hgvs_c": "n.*294G>A",
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"transcript": "ENST00000531833.1",
"protein_id": "ENSP00000473457.1",
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"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": "ENST00000531833.1"
}
],
"gene_symbol": "FAM86B1",
"gene_hgnc_id": 28268,
"dbsnp": "rs376073852",
"frequency_reference_population": 0.00014827195,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.000110423,
"gnomad_genomes_af": 0.000148272,
"gnomad_exomes_ac": 159,
"gnomad_genomes_ac": 22,
"gnomad_exomes_homalt": 9,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.43106862902641296,
"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": 0.159,
"revel_prediction": "Benign",
"alphamissense_score": 0.0943,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.061,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001083537.4",
"gene_symbol": "FAM86B1",
"hgnc_id": 28268,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.752G>A",
"hgvs_p": "p.Arg251His"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000715433.1",
"gene_symbol": "FAM66D",
"hgnc_id": 24159,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.764+7897C>T",
"hgvs_p": null
}
],
"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
}