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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: 4-184638432-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=184638432&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 184638432,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001354779.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "NM_004346.4",
"protein_id": "NP_004337.2",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 277,
"cds_start": 22,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308394.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004346.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "ENST00000308394.9",
"protein_id": "ENSP00000311032.4",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 277,
"cds_start": 22,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004346.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308394.9"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "ENST00000523916.5",
"protein_id": "ENSP00000428929.1",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 277,
"cds_start": 22,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523916.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "ENST00000393585.6",
"protein_id": "ENSP00000377210.2",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 182,
"cds_start": 22,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393585.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.-53G>A",
"hgvs_p": null,
"transcript": "NM_001354779.2",
"protein_id": "NP_001341708.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354779.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.-53G>A",
"hgvs_p": null,
"transcript": "NM_001354780.2",
"protein_id": "NP_001341709.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354780.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.-34G>A",
"hgvs_p": null,
"transcript": "NM_001440946.1",
"protein_id": "NP_001427875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": null,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440946.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.-53G>A",
"hgvs_p": null,
"transcript": "NM_001354784.2",
"protein_id": "NP_001341713.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": null,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354784.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "NM_001354777.2",
"protein_id": "NP_001341706.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 277,
"cds_start": 22,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354777.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "NM_032991.3",
"protein_id": "NP_116786.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 277,
"cds_start": 22,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032991.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "ENST00000700100.1",
"protein_id": "ENSP00000514797.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 277,
"cds_start": 22,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700100.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "ENST00000700101.1",
"protein_id": "ENSP00000514798.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 277,
"cds_start": 22,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700101.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "ENST00000872339.1",
"protein_id": "ENSP00000542398.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 277,
"cds_start": 22,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872339.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "ENST00000872340.1",
"protein_id": "ENSP00000542399.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 277,
"cds_start": 22,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872340.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "ENST00000872341.1",
"protein_id": "ENSP00000542400.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 277,
"cds_start": 22,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872341.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "ENST00000872342.1",
"protein_id": "ENSP00000542401.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 277,
"cds_start": 22,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872342.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "ENST00000872343.1",
"protein_id": "ENSP00000542402.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 277,
"cds_start": 22,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872343.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "ENST00000872344.1",
"protein_id": "ENSP00000542403.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 277,
"cds_start": 22,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872344.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "ENST00000872345.1",
"protein_id": "ENSP00000542404.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 277,
"cds_start": 22,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872345.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "ENST00000872346.1",
"protein_id": "ENSP00000542405.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 277,
"cds_start": 22,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872346.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "ENST00000872347.1",
"protein_id": "ENSP00000542406.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 277,
"cds_start": 22,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872347.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "ENST00000939939.1",
"protein_id": "ENSP00000609998.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 277,
"cds_start": 22,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.-34G>A",
"hgvs_p": null,
"transcript": "NM_001440946.1",
"protein_id": "NP_001427875.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": null,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440946.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.-53G>A",
"hgvs_p": null,
"transcript": "NM_001354784.2",
"protein_id": "NP_001341713.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": null,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354784.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "n.90G>A",
"hgvs_p": null,
"transcript": "ENST00000700102.1",
"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": "ENST00000700102.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "n.90G>A",
"hgvs_p": null,
"transcript": "ENST00000700103.1",
"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": "ENST00000700103.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "n.22G>A",
"hgvs_p": null,
"transcript": "ENST00000700104.1",
"protein_id": "ENSP00000514799.1",
"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": "ENST00000700104.1"
}
],
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"dbsnp": "rs950745993",
"frequency_reference_population": 0.0000025478973,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000141063,
"gnomad_genomes_af": 0.0000131475,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2860940992832184,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.069,
"revel_prediction": "Benign",
"alphamissense_score": 0.1105,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.012,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001354779.2",
"gene_symbol": "CASP3",
"hgnc_id": 1504,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-53G>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
}