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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: 5-81308703-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=81308703&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 81308703,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032280.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Pro176Leu",
"transcript": "NM_001131035.2",
"protein_id": "NP_001124507.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 271,
"cds_start": 527,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000407610.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001131035.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Pro176Leu",
"transcript": "ENST00000407610.8",
"protein_id": "ENSP00000385047.3",
"transcript_support_level": 2,
"aa_start": 176,
"aa_end": null,
"aa_length": 271,
"cds_start": 527,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001131035.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407610.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Pro176Leu",
"transcript": "ENST00000380199.9",
"protein_id": "ENSP00000369546.5",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 271,
"cds_start": 527,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380199.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Pro176Leu",
"transcript": "ENST00000438268.2",
"protein_id": "ENSP00000412637.2",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 271,
"cds_start": 527,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438268.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Pro176Leu",
"transcript": "ENST00000917111.1",
"protein_id": "ENSP00000587170.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 281,
"cds_start": 527,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917111.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Pro176Leu",
"transcript": "NM_001131036.2",
"protein_id": "NP_001124508.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 271,
"cds_start": 527,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001131036.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Pro176Leu",
"transcript": "NM_032280.3",
"protein_id": "NP_115656.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 271,
"cds_start": 527,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032280.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Pro176Leu",
"transcript": "ENST00000254037.6",
"protein_id": "ENSP00000254037.2",
"transcript_support_level": 2,
"aa_start": 176,
"aa_end": null,
"aa_length": 271,
"cds_start": 527,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254037.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Pro176Leu",
"transcript": "ENST00000917107.1",
"protein_id": "ENSP00000587166.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 271,
"cds_start": 527,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917107.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Pro176Leu",
"transcript": "ENST00000917108.1",
"protein_id": "ENSP00000587167.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 271,
"cds_start": 527,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917108.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Pro176Leu",
"transcript": "ENST00000917110.1",
"protein_id": "ENSP00000587169.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 271,
"cds_start": 527,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917110.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Pro176Leu",
"transcript": "ENST00000917112.1",
"protein_id": "ENSP00000587171.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 271,
"cds_start": 527,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917112.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Pro176Leu",
"transcript": "ENST00000917113.1",
"protein_id": "ENSP00000587172.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 271,
"cds_start": 527,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917113.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Pro176Leu",
"transcript": "ENST00000917114.1",
"protein_id": "ENSP00000587173.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 271,
"cds_start": 527,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917114.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Pro176Leu",
"transcript": "ENST00000917115.1",
"protein_id": "ENSP00000587174.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 271,
"cds_start": 527,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917115.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Pro176Leu",
"transcript": "ENST00000917109.1",
"protein_id": "ENSP00000587168.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 259,
"cds_start": 527,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917109.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Pro176Leu",
"transcript": "XM_047417827.1",
"protein_id": "XP_047273783.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 271,
"cds_start": 527,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417827.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Pro176Leu",
"transcript": "XM_047417828.1",
"protein_id": "XP_047273784.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 271,
"cds_start": 527,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417828.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOT12",
"gene_hgnc_id": 24436,
"hgvs_c": "c.*2272G>A",
"hgvs_p": null,
"transcript": "XM_017009045.2",
"protein_id": "XP_016864534.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": null,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009045.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOT12",
"gene_hgnc_id": 24436,
"hgvs_c": "c.*2272G>A",
"hgvs_p": null,
"transcript": "XM_017009046.2",
"protein_id": "XP_016864535.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": null,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009046.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOT12",
"gene_hgnc_id": 24436,
"hgvs_c": "c.*2272G>A",
"hgvs_p": null,
"transcript": "XM_017009047.2",
"protein_id": "XP_016864536.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": null,
"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": "XM_017009047.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOT12",
"gene_hgnc_id": 24436,
"hgvs_c": "c.*2272G>A",
"hgvs_p": null,
"transcript": "XM_017009048.2",
"protein_id": "XP_016864537.1",
"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": "XM_017009048.2"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
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"hgvs_c": "c.508+19C>T",
"hgvs_p": null,
"transcript": "ENST00000908072.1",
"protein_id": "ENSP00000578131.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": null,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908072.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"hgvs_c": "n.180C>T",
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"transcript": "ENST00000504502.1",
"protein_id": null,
"transcript_support_level": 3,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000504502.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"hgvs_c": "n.297C>T",
"hgvs_p": null,
"transcript": "ENST00000505860.5",
"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": "ENST00000505860.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"hgvs_c": "n.219C>T",
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"transcript": "ENST00000506458.5",
"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": "ENST00000506458.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"hgvs_c": "n.224C>T",
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"transcript": "ENST00000507402.5",
"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": "ENST00000507402.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"hgvs_c": "n.36C>T",
"hgvs_p": null,
"transcript": "ENST00000510227.1",
"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": "ENST00000510227.1"
}
],
"gene_symbol": "ZCCHC9",
"gene_hgnc_id": 25424,
"dbsnp": "rs369656009",
"frequency_reference_population": 0.00004356767,
"hom_count_reference_population": 0,
"allele_count_reference_population": 70,
"gnomad_exomes_af": 0.0000350636,
"gnomad_genomes_af": 0.000124837,
"gnomad_exomes_ac": 51,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25548845529556274,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.219,
"revel_prediction": "Benign",
"alphamissense_score": 0.2253,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.687,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_032280.3",
"gene_symbol": "ZCCHC9",
"hgnc_id": 25424,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Pro176Leu"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XM_017009045.2",
"gene_symbol": "ACOT12",
"hgnc_id": 24436,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*2272G>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
}