← Back to variant description
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: 14-74046117-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=74046117&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 74046117,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_025057.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.His212Tyr",
"transcript": "NM_025057.3",
"protein_id": "NP_079333.2",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 529,
"cds_start": 634,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394009.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025057.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.His212Tyr",
"transcript": "ENST00000394009.5",
"protein_id": "ENSP00000377577.3",
"transcript_support_level": 2,
"aa_start": 212,
"aa_end": null,
"aa_length": 529,
"cds_start": 634,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025057.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394009.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.His164Tyr",
"transcript": "ENST00000901146.1",
"protein_id": "ENSP00000571205.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 481,
"cds_start": 490,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901146.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.His212Tyr",
"transcript": "ENST00000901145.1",
"protein_id": "ENSP00000571204.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 316,
"cds_start": 634,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901145.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.His72Tyr",
"transcript": "ENST00000464394.5",
"protein_id": "ENSP00000451659.1",
"transcript_support_level": 3,
"aa_start": 72,
"aa_end": null,
"aa_length": 123,
"cds_start": 214,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464394.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.His212Tyr",
"transcript": "XM_011537170.3",
"protein_id": "XP_011535472.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 601,
"cds_start": 634,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537170.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.His212Tyr",
"transcript": "XM_011537171.3",
"protein_id": "XP_011535473.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 597,
"cds_start": 634,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537171.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.His212Tyr",
"transcript": "XM_005268092.4",
"protein_id": "XP_005268149.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 565,
"cds_start": 634,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268092.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.His212Tyr",
"transcript": "XM_011537174.3",
"protein_id": "XP_011535476.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 565,
"cds_start": 634,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537174.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.His212Tyr",
"transcript": "XM_047431778.1",
"protein_id": "XP_047287734.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 561,
"cds_start": 634,
"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": "XM_047431778.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.His164Tyr",
"transcript": "XM_011537175.3",
"protein_id": "XP_011535477.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 553,
"cds_start": 490,
"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": "XM_011537175.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.415C>T",
"hgvs_p": "p.His139Tyr",
"transcript": "XM_011537176.3",
"protein_id": "XP_011535478.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 528,
"cds_start": 415,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537176.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.His164Tyr",
"transcript": "XM_047431779.1",
"protein_id": "XP_047287735.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 481,
"cds_start": 490,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431779.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.His72Tyr",
"transcript": "XM_011537177.3",
"protein_id": "XP_011535479.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 461,
"cds_start": 214,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537177.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.His72Tyr",
"transcript": "XM_011537178.3",
"protein_id": "XP_011535480.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 461,
"cds_start": 214,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537178.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.His72Tyr",
"transcript": "XM_047431780.1",
"protein_id": "XP_047287736.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 425,
"cds_start": 214,
"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": "XM_047431780.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.His72Tyr",
"transcript": "XM_017021660.2",
"protein_id": "XP_016877149.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 421,
"cds_start": 214,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021660.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.His8Tyr",
"transcript": "XM_011537179.3",
"protein_id": "XP_011535481.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 397,
"cds_start": 22,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537179.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.214C>T",
"hgvs_p": "p.His72Tyr",
"transcript": "XM_017021661.2",
"protein_id": "XP_016877150.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 389,
"cds_start": 214,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021661.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.His8Tyr",
"transcript": "XM_047431781.1",
"protein_id": "XP_047287737.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 361,
"cds_start": 22,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431781.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.His8Tyr",
"transcript": "XM_047431782.1",
"protein_id": "XP_047287738.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 361,
"cds_start": 22,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431782.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.His212Tyr",
"transcript": "XM_047431783.1",
"protein_id": "XP_047287739.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 352,
"cds_start": 634,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431783.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"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": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.His8Tyr",
"transcript": "XM_017021662.2",
"protein_id": "XP_016877151.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 325,
"cds_start": 22,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021662.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.His212Tyr",
"transcript": "XM_017021663.2",
"protein_id": "XP_016877152.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 316,
"cds_start": 634,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021663.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.634C>T",
"hgvs_p": "p.His212Tyr",
"transcript": "XM_047431785.1",
"protein_id": "XP_047287741.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 267,
"cds_start": 634,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431785.1"
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "c.577-644C>T",
"hgvs_p": null,
"transcript": "XM_047431784.1",
"protein_id": "XP_047287740.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": null,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431784.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "n.27C>T",
"hgvs_p": null,
"transcript": "ENST00000477986.2",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000477986.2"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "n.294C>T",
"hgvs_p": null,
"transcript": "ENST00000489323.5",
"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": "pseudogene",
"feature": "ENST00000489323.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "n.764C>T",
"hgvs_p": null,
"transcript": "XR_007064048.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064048.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "n.764C>T",
"hgvs_p": null,
"transcript": "XR_007064049.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064049.1"
},
{
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"hgvs_c": "n.341-1813C>T",
"hgvs_p": null,
"transcript": "ENST00000492026.4",
"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": "pseudogene",
"feature": "ENST00000492026.4"
}
],
"gene_symbol": "BBOF1",
"gene_hgnc_id": 19855,
"dbsnp": "rs371096556",
"frequency_reference_population": 0.000029237764,
"hom_count_reference_population": 0,
"allele_count_reference_population": 47,
"gnomad_exomes_af": 0.0000288615,
"gnomad_genomes_af": 0.0000328338,
"gnomad_exomes_ac": 42,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19599810242652893,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.067,
"revel_prediction": "Benign",
"alphamissense_score": 0.1309,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.419,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_025057.3",
"gene_symbol": "BBOF1",
"hgnc_id": 19855,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.634C>T",
"hgvs_p": "p.His212Tyr"
}
],
"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
}