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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: 4-184635399-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=184635399&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 184635399,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004346.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Glu25Lys",
"transcript": "NM_004346.4",
"protein_id": "NP_004337.2",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 277,
"cds_start": 73,
"cds_end": null,
"cds_length": 834,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": "ENST00000308394.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Glu25Lys",
"transcript": "ENST00000308394.9",
"protein_id": "ENSP00000311032.4",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 277,
"cds_start": 73,
"cds_end": null,
"cds_length": 834,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": "NM_004346.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.73G>A",
"hgvs_p": "p.Glu25Lys",
"transcript": "ENST00000523916.5",
"protein_id": "ENSP00000428929.1",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 277,
"cds_start": 73,
"cds_end": null,
"cds_length": 834,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Glu25Lys",
"transcript": "ENST00000393585.6",
"protein_id": "ENSP00000377210.2",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 182,
"cds_start": 73,
"cds_end": null,
"cds_length": 549,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Glu25Lys",
"transcript": "NM_001354777.2",
"protein_id": "NP_001341706.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 277,
"cds_start": 73,
"cds_end": null,
"cds_length": 834,
"cdna_start": 270,
"cdna_end": null,
"cdna_length": 2607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.73G>A",
"hgvs_p": "p.Glu25Lys",
"transcript": "NM_032991.3",
"protein_id": "NP_116786.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 277,
"cds_start": 73,
"cds_end": null,
"cds_length": 834,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.73G>A",
"hgvs_p": "p.Glu25Lys",
"transcript": "ENST00000700100.1",
"protein_id": "ENSP00000514797.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 277,
"cds_start": 73,
"cds_end": null,
"cds_length": 834,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 2838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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.73G>A",
"hgvs_p": "p.Glu25Lys",
"transcript": "ENST00000700101.1",
"protein_id": "ENSP00000514798.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 277,
"cds_start": 73,
"cds_end": null,
"cds_length": 834,
"cdna_start": 159,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Glu34Lys",
"transcript": "NM_001354783.2",
"protein_id": "NP_001341712.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 191,
"cds_start": 100,
"cds_end": null,
"cds_length": 576,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Glu25Lys",
"transcript": "NM_001354781.2",
"protein_id": "NP_001341710.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 182,
"cds_start": 73,
"cds_end": null,
"cds_length": 549,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 2357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Glu25Lys",
"transcript": "NM_001354782.2",
"protein_id": "NP_001341711.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 182,
"cds_start": 73,
"cds_end": null,
"cds_length": 549,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 2524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Glu25Lys",
"transcript": "ENST00000393588.8",
"protein_id": "ENSP00000377213.4",
"transcript_support_level": 4,
"aa_start": 25,
"aa_end": null,
"aa_length": 182,
"cds_start": 73,
"cds_end": null,
"cds_length": 549,
"cdna_start": 149,
"cdna_end": null,
"cdna_length": 677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Glu25Lys",
"transcript": "ENST00000517513.5",
"protein_id": "ENSP00000428372.1",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 182,
"cds_start": 73,
"cds_end": null,
"cds_length": 549,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Glu25Lys",
"transcript": "ENST00000447121.2",
"protein_id": "ENSP00000407142.2",
"transcript_support_level": 3,
"aa_start": 25,
"aa_end": null,
"aa_length": 116,
"cds_start": 73,
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"cdna_start": 270,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Glu25Lys",
"transcript": "XM_047416236.1",
"protein_id": "XP_047272192.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 277,
"cds_start": 73,
"cds_end": null,
"cds_length": 834,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 2932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Glu25Lys",
"transcript": "XM_047416237.1",
"protein_id": "XP_047272193.1",
"transcript_support_level": null,
"aa_start": 25,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Glu25Lys",
"transcript": "XM_047416238.1",
"protein_id": "XP_047272194.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 277,
"cds_start": 73,
"cds_end": null,
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"cdna_start": 557,
"cdna_end": null,
"cdna_length": 2894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Glu25Lys",
"transcript": "XM_047416239.1",
"protein_id": "XP_047272195.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 277,
"cds_start": 73,
"cds_end": null,
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"cdna_start": 500,
"cdna_end": null,
"cdna_length": 2837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "n.141G>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": -4,
"cds_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "n.141G>A",
"hgvs_p": null,
"transcript": "ENST00000700103.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_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.-6G>A",
"hgvs_p": null,
"transcript": "NM_001354779.2",
"protein_id": "NP_001341708.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 251,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.-6G>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": -4,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.-6G>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": -4,
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"cds_length": 471,
"cdna_start": null,
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"cdna_length": 2353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
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"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "c.-3+3002G>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": -4,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
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"cdna_length": 2520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"hgvs_c": "n.53+3002G>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CASP3",
"gene_hgnc_id": 1504,
"dbsnp": "rs776881401",
"frequency_reference_population": 0.000022337244,
"hom_count_reference_population": 0,
"allele_count_reference_population": 36,
"gnomad_exomes_af": 0.000022611,
"gnomad_genomes_af": 0.0000197119,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01646322011947632,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.103,
"revel_prediction": "Benign",
"alphamissense_score": 0.0634,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.992,
"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": -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_004346.4",
"gene_symbol": "CASP3",
"hgnc_id": 1504,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.73G>A",
"hgvs_p": "p.Glu25Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}