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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: 9-130626392-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=130626392&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 130626392,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003934.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"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.1004C>T",
"hgvs_p": "p.Ala335Val",
"transcript": "NM_003934.2",
"protein_id": "NP_003925.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 572,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000319725.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003934.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1004C>T",
"hgvs_p": "p.Ala335Val",
"transcript": "ENST00000319725.10",
"protein_id": "ENSP00000318177.9",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 572,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003934.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319725.10"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1097C>T",
"hgvs_p": "p.Ala366Val",
"transcript": "ENST00000964145.1",
"protein_id": "ENSP00000634204.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 603,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964145.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1046C>T",
"hgvs_p": "p.Ala349Val",
"transcript": "ENST00000936135.1",
"protein_id": "ENSP00000606194.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 586,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936135.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1004C>T",
"hgvs_p": "p.Ala335Val",
"transcript": "ENST00000936137.1",
"protein_id": "ENSP00000606196.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 581,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936137.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1001C>T",
"hgvs_p": "p.Ala334Val",
"transcript": "ENST00000863495.1",
"protein_id": "ENSP00000533554.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 571,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863495.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1004C>T",
"hgvs_p": "p.Ala335Val",
"transcript": "ENST00000936136.1",
"protein_id": "ENSP00000606195.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 561,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936136.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.947C>T",
"hgvs_p": "p.Ala316Val",
"transcript": "ENST00000964142.1",
"protein_id": "ENSP00000634201.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 553,
"cds_start": 947,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964142.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.944C>T",
"hgvs_p": "p.Ala315Val",
"transcript": "ENST00000863499.1",
"protein_id": "ENSP00000533558.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 552,
"cds_start": 944,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863499.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1004C>T",
"hgvs_p": "p.Ala335Val",
"transcript": "ENST00000863494.1",
"protein_id": "ENSP00000533553.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 548,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863494.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1001C>T",
"hgvs_p": "p.Ala334Val",
"transcript": "ENST00000863497.1",
"protein_id": "ENSP00000533556.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 547,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863497.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1004C>T",
"hgvs_p": "p.Ala335Val",
"transcript": "ENST00000964144.1",
"protein_id": "ENSP00000634203.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 547,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964144.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1004C>T",
"hgvs_p": "p.Ala335Val",
"transcript": "ENST00000863496.1",
"protein_id": "ENSP00000533555.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 545,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863496.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.947C>T",
"hgvs_p": "p.Ala316Val",
"transcript": "ENST00000964143.1",
"protein_id": "ENSP00000634202.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 529,
"cds_start": 947,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964143.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1004C>T",
"hgvs_p": "p.Ala335Val",
"transcript": "ENST00000936134.1",
"protein_id": "ENSP00000606193.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 521,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936134.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1004C>T",
"hgvs_p": "p.Ala335Val",
"transcript": "ENST00000863498.1",
"protein_id": "ENSP00000533557.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 417,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863498.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.422C>T",
"hgvs_p": "p.Ala141Val",
"transcript": "ENST00000964146.1",
"protein_id": "ENSP00000634205.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 378,
"cds_start": 422,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964146.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1004C>T",
"hgvs_p": "p.Ala335Val",
"transcript": "XM_005272232.3",
"protein_id": "XP_005272289.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 548,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005272232.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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.1004C>T",
"hgvs_p": "p.Ala335Val",
"transcript": "XM_011519172.4",
"protein_id": "XP_011517474.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 514,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.278C>T",
"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": null,
"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.*2820C>T",
"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": null,
"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.*889C>T",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699747.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 12,
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"exon_count": 15,
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"gene_symbol": "FUBP3",
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"biotype": "pseudogene",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "FUBP3",
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"transcript": "ENST00000650723.1",
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650723.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
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"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"hgvs_c": "n.*889C>T",
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"transcript": "ENST00000699747.1",
"protein_id": "ENSP00000514557.1",
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"aa_end": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699747.1"
},
{
"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.*29C>T",
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"transcript": "ENST00000613330.1",
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"transcript_support_level": 6,
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"cdna_start": null,
"cdna_end": null,
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"mane_plus": null,
"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,
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"exon_count": 1,
"intron_rank": null,
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"gene_symbol": "MIR6856",
"gene_hgnc_id": 50242,
"hgvs_c": "n.*29C>T",
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"transcript": "NR_106915.1",
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"biotype": "pseudogene",
"feature": "NR_106915.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 1,
"intron_rank": null,
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"gene_symbol": "MIR6856",
"gene_hgnc_id": 50242,
"hgvs_c": "n.*67C>T",
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"transcript": "unassigned_transcript_1685",
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"cdna_end": null,
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"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,
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"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR6856",
"gene_hgnc_id": 50242,
"hgvs_c": "n.*29C>T",
"hgvs_p": null,
"transcript": "unassigned_transcript_1686",
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"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "miRNA",
"feature": "unassigned_transcript_1686"
}
],
"gene_symbol": "FUBP3",
"gene_hgnc_id": 4005,
"dbsnp": "rs763260086",
"frequency_reference_population": 0.000011632729,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000116327,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06919977068901062,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.0626,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.279,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003934.2",
"gene_symbol": "FUBP3",
"hgnc_id": 4005,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Ala335Val"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NR_106915.1",
"gene_symbol": "MIR6856",
"hgnc_id": 50242,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*29C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}