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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: 2-222908851-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=222908851&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 222908851,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004457.5",
"consequences": [
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.His27Tyr",
"transcript": "NM_004457.5",
"protein_id": "NP_004448.2",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 720,
"cds_start": 79,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357430.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004457.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.His27Tyr",
"transcript": "ENST00000357430.8",
"protein_id": "ENSP00000350012.3",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 720,
"cds_start": 79,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004457.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357430.8"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.His27Tyr",
"transcript": "ENST00000903386.1",
"protein_id": "ENSP00000573445.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 725,
"cds_start": 79,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903386.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.His27Tyr",
"transcript": "NM_001354158.2",
"protein_id": "NP_001341087.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 720,
"cds_start": 79,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354158.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.His27Tyr",
"transcript": "NM_001354159.2",
"protein_id": "NP_001341088.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 720,
"cds_start": 79,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354159.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.His27Tyr",
"transcript": "NM_203372.3",
"protein_id": "NP_976251.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 720,
"cds_start": 79,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203372.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.His27Tyr",
"transcript": "ENST00000392066.7",
"protein_id": "ENSP00000375918.3",
"transcript_support_level": 5,
"aa_start": 27,
"aa_end": null,
"aa_length": 720,
"cds_start": 79,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392066.7"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.His27Tyr",
"transcript": "ENST00000679514.1",
"protein_id": "ENSP00000506361.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 720,
"cds_start": 79,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679514.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.His27Tyr",
"transcript": "ENST00000679558.1",
"protein_id": "ENSP00000504907.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 720,
"cds_start": 79,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679558.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.His27Tyr",
"transcript": "ENST00000680147.1",
"protein_id": "ENSP00000504861.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 720,
"cds_start": 79,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680147.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.His27Tyr",
"transcript": "ENST00000680251.1",
"protein_id": "ENSP00000505400.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 720,
"cds_start": 79,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680251.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.His27Tyr",
"transcript": "ENST00000680395.1",
"protein_id": "ENSP00000505793.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 720,
"cds_start": 79,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680395.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.His27Tyr",
"transcript": "ENST00000680684.1",
"protein_id": "ENSP00000506468.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 720,
"cds_start": 79,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680684.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.His27Tyr",
"transcript": "ENST00000680921.1",
"protein_id": "ENSP00000505940.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 720,
"cds_start": 79,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680921.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.His27Tyr",
"transcript": "ENST00000681383.1",
"protein_id": "ENSP00000505654.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 720,
"cds_start": 79,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681383.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.His27Tyr",
"transcript": "ENST00000681697.1",
"protein_id": "ENSP00000505856.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 720,
"cds_start": 79,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681697.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.His27Tyr",
"transcript": "ENST00000903381.1",
"protein_id": "ENSP00000573440.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 720,
"cds_start": 79,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903381.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.His27Tyr",
"transcript": "ENST00000903382.1",
"protein_id": "ENSP00000573441.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 720,
"cds_start": 79,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903382.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.His27Tyr",
"transcript": "ENST00000903383.1",
"protein_id": "ENSP00000573442.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 720,
"cds_start": 79,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903383.1"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.His27Tyr",
"transcript": "ENST00000903384.1",
"protein_id": "ENSP00000573443.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 720,
"cds_start": 79,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903384.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.His27Tyr",
"transcript": "ENST00000955376.1",
"protein_id": "ENSP00000625435.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 720,
"cds_start": 79,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955376.1"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "c.79C>T",
"hgvs_p": "p.His27Tyr",
"transcript": "ENST00000955377.1",
"protein_id": "ENSP00000625436.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 720,
"cds_start": 79,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955377.1"
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"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
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"hgvs_c": "n.453C>T",
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"transcript": "ENST00000681017.1",
"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": "retained_intron",
"feature": "ENST00000681017.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
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"hgvs_c": "n.79C>T",
"hgvs_p": null,
"transcript": "ENST00000681292.1",
"protein_id": "ENSP00000505336.1",
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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": "ENST00000681292.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "n.453C>T",
"hgvs_p": null,
"transcript": "ENST00000681326.1",
"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": "retained_intron",
"feature": "ENST00000681326.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "n.79C>T",
"hgvs_p": null,
"transcript": "ENST00000681906.1",
"protein_id": "ENSP00000505334.1",
"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": "ENST00000681906.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"hgvs_c": "n.-234C>T",
"hgvs_p": null,
"transcript": "ENST00000542810.1",
"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": "ENST00000542810.1"
}
],
"gene_symbol": "ACSL3",
"gene_hgnc_id": 3570,
"dbsnp": "rs775187847",
"frequency_reference_population": 0.000003117137,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000275503,
"gnomad_genomes_af": 0.00000657263,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11871358752250671,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": 0.0819,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.027,
"phylop100way_prediction": "Benign",
"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": 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_004457.5",
"gene_symbol": "ACSL3",
"hgnc_id": 3570,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.79C>T",
"hgvs_p": "p.His27Tyr"
}
],
"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
}