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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: 9-130626410-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=130626410&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 130626410,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003934.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341His",
"transcript": "NM_003934.2",
"protein_id": "NP_003925.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 572,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 3153,
"mane_select": "ENST00000319725.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003934.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341His",
"transcript": "ENST00000319725.10",
"protein_id": "ENSP00000318177.9",
"transcript_support_level": 1,
"aa_start": 341,
"aa_end": null,
"aa_length": 572,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 3153,
"mane_select": "NM_003934.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319725.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "c.1115G>A",
"hgvs_p": "p.Arg372His",
"transcript": "ENST00000964145.1",
"protein_id": "ENSP00000634204.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 603,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 3231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964145.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355His",
"transcript": "ENST00000936135.1",
"protein_id": "ENSP00000606194.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 586,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936135.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341His",
"transcript": "ENST00000936137.1",
"protein_id": "ENSP00000606196.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 581,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 3140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936137.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "ENST00000863495.1",
"protein_id": "ENSP00000533554.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 571,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1135,
"cdna_end": null,
"cdna_length": 3164,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863495.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341His",
"transcript": "ENST00000936136.1",
"protein_id": "ENSP00000606195.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 561,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936136.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Arg322His",
"transcript": "ENST00000964142.1",
"protein_id": "ENSP00000634201.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 553,
"cds_start": 965,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964142.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "c.962G>A",
"hgvs_p": "p.Arg321His",
"transcript": "ENST00000863499.1",
"protein_id": "ENSP00000533558.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 552,
"cds_start": 962,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 3058,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863499.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341His",
"transcript": "ENST00000863494.1",
"protein_id": "ENSP00000533553.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 548,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 3100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863494.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "ENST00000863497.1",
"protein_id": "ENSP00000533556.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 547,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 3057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863497.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341His",
"transcript": "ENST00000964144.1",
"protein_id": "ENSP00000634203.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 547,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 3070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964144.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341His",
"transcript": "ENST00000863496.1",
"protein_id": "ENSP00000533555.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 545,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 3059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863496.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Arg322His",
"transcript": "ENST00000964143.1",
"protein_id": "ENSP00000634202.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 529,
"cds_start": 965,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 3018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964143.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341His",
"transcript": "ENST00000936134.1",
"protein_id": "ENSP00000606193.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 521,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 3043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936134.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341His",
"transcript": "ENST00000863498.1",
"protein_id": "ENSP00000533557.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 417,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863498.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "c.440G>A",
"hgvs_p": "p.Arg147His",
"transcript": "ENST00000964146.1",
"protein_id": "ENSP00000634205.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 378,
"cds_start": 440,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 2525,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964146.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341His",
"transcript": "XM_005272232.3",
"protein_id": "XP_005272289.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 548,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 3081,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272232.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341His",
"transcript": "XM_011519172.4",
"protein_id": "XP_011517474.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 514,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 2629,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519172.4"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "n.296G>A",
"hgvs_p": null,
"transcript": "ENST00000487406.2",
"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": 840,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000487406.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "n.*2838G>A",
"hgvs_p": null,
"transcript": "ENST00000650723.1",
"protein_id": "ENSP00000499109.1",
"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": 5090,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650723.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "n.*907G>A",
"hgvs_p": null,
"transcript": "ENST00000699747.1",
"protein_id": "ENSP00000514557.1",
"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": 3010,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699747.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "FUBP3",
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"transcript": "XR_007061369.1",
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"cdna_length": 1589,
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"biotype": "pseudogene",
"feature": "XR_007061369.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 14,
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"exon_count": 21,
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"gene_symbol": "FUBP3",
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"transcript": "ENST00000650723.1",
"protein_id": "ENSP00000499109.1",
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"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 5090,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650723.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "n.*907G>A",
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"transcript": "ENST00000699747.1",
"protein_id": "ENSP00000514557.1",
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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": 3010,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699747.1"
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6856",
"gene_hgnc_id": 50242,
"hgvs_c": "n.*47G>A",
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"transcript": "ENST00000613330.1",
"protein_id": null,
"transcript_support_level": 6,
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 67,
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"biotype": "miRNA",
"feature": "ENST00000613330.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6856",
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"hgvs_c": "n.*47G>A",
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"transcript": "NR_106915.1",
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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": 67,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_106915.1"
},
{
"aa_ref": null,
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"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6856",
"gene_hgnc_id": 50242,
"hgvs_c": "n.*85G>A",
"hgvs_p": null,
"transcript": "unassigned_transcript_1685",
"protein_id": null,
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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": 24,
"mane_select": null,
"mane_plus": null,
"biotype": "miRNA",
"feature": "unassigned_transcript_1685"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6856",
"gene_hgnc_id": 50242,
"hgvs_c": "n.*47G>A",
"hgvs_p": null,
"transcript": "unassigned_transcript_1686",
"protein_id": null,
"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": 22,
"mane_select": null,
"mane_plus": null,
"biotype": "miRNA",
"feature": "unassigned_transcript_1686"
}
],
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"dbsnp": "rs750329577",
"frequency_reference_population": 0.000010533634,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000957819,
"gnomad_genomes_af": 0.0000197078,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.813542902469635,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.316,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1518,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.996,
"phylop100way_prediction": "Pathogenic",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003934.2",
"gene_symbol": "FUBP3",
"hgnc_id": 4005,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341His"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NR_106915.1",
"gene_symbol": "MIR6856",
"hgnc_id": 50242,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*47G>A",
"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
}