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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: 1-46814027-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46814027&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46814027,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001099772.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.739T>C",
"hgvs_p": "p.Phe247Leu",
"transcript": "NM_001099772.2",
"protein_id": "NP_001093242.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 512,
"cds_start": 739,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371923.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099772.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.739T>C",
"hgvs_p": "p.Phe247Leu",
"transcript": "ENST00000371923.9",
"protein_id": "ENSP00000360991.4",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 512,
"cds_start": 739,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001099772.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371923.9"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.736T>C",
"hgvs_p": "p.Phe246Leu",
"transcript": "ENST00000271153.8",
"protein_id": "ENSP00000271153.4",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 511,
"cds_start": 736,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000271153.8"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.694T>C",
"hgvs_p": "p.Phe232Leu",
"transcript": "ENST00000371919.8",
"protein_id": "ENSP00000360987.4",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 497,
"cds_start": 694,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371919.8"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "n.*446T>C",
"hgvs_p": null,
"transcript": "ENST00000529715.5",
"protein_id": "ENSP00000443212.1",
"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": "ENST00000529715.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "n.*446T>C",
"hgvs_p": null,
"transcript": "ENST00000529715.5",
"protein_id": "ENSP00000443212.1",
"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": "ENST00000529715.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.739T>C",
"hgvs_p": "p.Phe247Leu",
"transcript": "ENST00000887999.1",
"protein_id": "ENSP00000558058.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 542,
"cds_start": 739,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887999.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.736T>C",
"hgvs_p": "p.Phe246Leu",
"transcript": "ENST00000940946.1",
"protein_id": "ENSP00000611005.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 532,
"cds_start": 736,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940946.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.736T>C",
"hgvs_p": "p.Phe246Leu",
"transcript": "NM_000779.4",
"protein_id": "NP_000770.2",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 511,
"cds_start": 736,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000779.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.694T>C",
"hgvs_p": "p.Phe232Leu",
"transcript": "NM_001319161.2",
"protein_id": "NP_001306090.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 497,
"cds_start": 694,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319161.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.691T>C",
"hgvs_p": "p.Phe231Leu",
"transcript": "ENST00000887998.1",
"protein_id": "ENSP00000558057.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 496,
"cds_start": 691,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887998.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.562T>C",
"hgvs_p": "p.Phe188Leu",
"transcript": "ENST00000888001.1",
"protein_id": "ENSP00000558060.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 453,
"cds_start": 562,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888001.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.541T>C",
"hgvs_p": "p.Phe181Leu",
"transcript": "ENST00000888002.1",
"protein_id": "ENSP00000558061.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 446,
"cds_start": 541,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888002.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.739T>C",
"hgvs_p": "p.Phe247Leu",
"transcript": "ENST00000940944.1",
"protein_id": "ENSP00000611003.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 418,
"cds_start": 739,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940944.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.424T>C",
"hgvs_p": "p.Phe142Leu",
"transcript": "ENST00000940948.1",
"protein_id": "ENSP00000611007.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 407,
"cds_start": 424,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940948.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.421T>C",
"hgvs_p": "p.Phe141Leu",
"transcript": "ENST00000940943.1",
"protein_id": "ENSP00000611002.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 406,
"cds_start": 421,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940943.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.250T>C",
"hgvs_p": "p.Phe84Leu",
"transcript": "NM_001319162.2",
"protein_id": "NP_001306091.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 349,
"cds_start": 250,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319162.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Phe83Leu",
"transcript": "NM_001319163.2",
"protein_id": "NP_001306092.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 348,
"cds_start": 247,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319163.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.666T>C",
"hgvs_p": "p.Ala222Ala",
"transcript": "ENST00000888000.1",
"protein_id": "ENSP00000558059.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 486,
"cds_start": 666,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888000.1"
},
{
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.524-182T>C",
"hgvs_p": null,
"transcript": "ENST00000940947.1",
"protein_id": "ENSP00000611006.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 428,
"cds_start": null,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940947.1"
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.323-182T>C",
"hgvs_p": null,
"transcript": "ENST00000940945.1",
"protein_id": "ENSP00000611004.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": null,
"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": "ENST00000940945.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "n.484T>C",
"hgvs_p": null,
"transcript": "ENST00000452782.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000452782.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
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"hgvs_c": "n.666T>C",
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"transcript": "ENST00000464439.6",
"protein_id": "ENSP00000433068.1",
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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": "ENST00000464439.6"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "n.451T>C",
"hgvs_p": null,
"transcript": "ENST00000468637.3",
"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": "ENST00000468637.3"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "n.*285T>C",
"hgvs_p": null,
"transcript": "ENST00000534708.6",
"protein_id": "ENSP00000433367.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000534708.6"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "n.702T>C",
"hgvs_p": null,
"transcript": "NR_135003.2",
"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": "NR_135003.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "n.*285T>C",
"hgvs_p": null,
"transcript": "ENST00000534708.6",
"protein_id": "ENSP00000433367.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000534708.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"hgvs_c": "c.*39T>C",
"hgvs_p": null,
"transcript": "ENST00000526297.5",
"protein_id": "ENSP00000438995.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 69,
"cds_start": null,
"cds_end": null,
"cds_length": 211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526297.5"
}
],
"gene_symbol": "CYP4B1",
"gene_hgnc_id": 2644,
"dbsnp": "rs151203772",
"frequency_reference_population": 0.0004615478,
"hom_count_reference_population": 6,
"allele_count_reference_population": 745,
"gnomad_exomes_af": 0.00025584,
"gnomad_genomes_af": 0.00243624,
"gnomad_exomes_ac": 374,
"gnomad_genomes_ac": 371,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01076921820640564,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.39,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9608,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.836,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001099772.2",
"gene_symbol": "CYP4B1",
"hgnc_id": 2644,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.739T>C",
"hgvs_p": "p.Phe247Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}