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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: 2-111123785-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=111123785&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 111123785,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_138621.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.40C>A",
"hgvs_p": "p.Arg14Arg",
"transcript": "NM_138621.5",
"protein_id": "NP_619527.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 198,
"cds_start": 40,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393256.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138621.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.40C>A",
"hgvs_p": "p.Arg14Arg",
"transcript": "ENST00000393256.8",
"protein_id": "ENSP00000376943.2",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 198,
"cds_start": 40,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138621.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393256.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.40C>A",
"hgvs_p": "p.Arg14Arg",
"transcript": "ENST00000405953.6",
"protein_id": "ENSP00000384641.1",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 112,
"cds_start": 40,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405953.6"
},
{
"aa_ref": null,
"aa_alt": null,
"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": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "n.40C>A",
"hgvs_p": null,
"transcript": "ENST00000361493.10",
"protein_id": "ENSP00000354879.6",
"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": "ENST00000361493.10"
},
{
"aa_ref": null,
"aa_alt": null,
"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": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "n.40C>A",
"hgvs_p": null,
"transcript": "ENST00000415458.5",
"protein_id": "ENSP00000393781.1",
"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": "ENST00000415458.5"
},
{
"aa_ref": null,
"aa_alt": null,
"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": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "n.40C>A",
"hgvs_p": null,
"transcript": "ENST00000436733.5",
"protein_id": "ENSP00000403727.1",
"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": "ENST00000436733.5"
},
{
"aa_ref": null,
"aa_alt": null,
"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": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "n.40C>A",
"hgvs_p": null,
"transcript": "ENST00000437029.5",
"protein_id": "ENSP00000412892.1",
"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": "ENST00000437029.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "n.40C>A",
"hgvs_p": null,
"transcript": "ENST00000439718.1",
"protein_id": "ENSP00000411137.1",
"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": "ENST00000439718.1"
},
{
"aa_ref": null,
"aa_alt": null,
"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": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "n.40C>A",
"hgvs_p": null,
"transcript": "ENST00000452231.5",
"protein_id": "ENSP00000391292.1",
"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": "ENST00000452231.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.322C>A",
"hgvs_p": "p.Arg108Arg",
"transcript": "ENST00000393252.4",
"protein_id": "ENSP00000376941.4",
"transcript_support_level": 2,
"aa_start": 108,
"aa_end": null,
"aa_length": 292,
"cds_start": 322,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393252.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.40C>A",
"hgvs_p": "p.Arg14Arg",
"transcript": "ENST00000715206.1",
"protein_id": "ENSP00000520413.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 198,
"cds_start": 40,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715206.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.40C>A",
"hgvs_p": "p.Arg14Arg",
"transcript": "NM_001204108.1",
"protein_id": "NP_001191037.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 172,
"cds_start": 40,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204108.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.40C>A",
"hgvs_p": "p.Arg14Arg",
"transcript": "NM_138622.4",
"protein_id": "NP_619528.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 169,
"cds_start": 40,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138622.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.40C>A",
"hgvs_p": "p.Arg14Arg",
"transcript": "NM_001204109.2",
"protein_id": "NP_001191038.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 140,
"cds_start": 40,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204109.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.40C>A",
"hgvs_p": "p.Arg14Arg",
"transcript": "NM_006538.5",
"protein_id": "NP_006529.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 138,
"cds_start": 40,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006538.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.40C>A",
"hgvs_p": "p.Arg14Arg",
"transcript": "ENST00000308659.12",
"protein_id": "ENSP00000309226.8",
"transcript_support_level": 2,
"aa_start": 14,
"aa_end": null,
"aa_length": 138,
"cds_start": 40,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308659.12"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.40C>A",
"hgvs_p": "p.Arg14Arg",
"transcript": "NM_138624.4",
"protein_id": "NP_619530.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 135,
"cds_start": 40,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138624.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.40C>A",
"hgvs_p": "p.Arg14Arg",
"transcript": "NM_138626.4",
"protein_id": "NP_619532.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 135,
"cds_start": 40,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138626.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.40C>A",
"hgvs_p": "p.Arg14Arg",
"transcript": "ENST00000432179.1",
"protein_id": "ENSP00000411870.1",
"transcript_support_level": 4,
"aa_start": 14,
"aa_end": null,
"aa_length": 121,
"cds_start": 40,
"cds_end": null,
"cds_length": 367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432179.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.40C>A",
"hgvs_p": "p.Arg14Arg",
"transcript": "NM_207002.3",
"protein_id": "NP_996885.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 112,
"cds_start": 40,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207002.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.40C>A",
"hgvs_p": "p.Arg14Arg",
"transcript": "NM_138623.4",
"protein_id": "NP_619529.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 109,
"cds_start": 40,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138623.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L11",
"gene_hgnc_id": 994,
"hgvs_c": "c.40C>A",
"hgvs_p": "p.Arg14Arg",
"transcript": "NM_001204106.2",
"protein_id": "NP_001191035.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 108,
"cds_start": 40,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204106.2"
},
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{
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],
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"biotype": "pseudogene",
"feature": "XR_007068187.1"
},
{
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"protein_coding": false,
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"biotype": "pseudogene",
"feature": "XR_007068189.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
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"gene_symbol": "MIR4435-2HG",
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"feature": "ENST00000645030.2"
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{
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"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "ENSG00000293584",
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"hgvs_c": "c.*20C>A",
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"biotype": "protein_coding",
"feature": "ENST00000715207.1"
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],
"gene_symbol": "BCL2L11",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
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"gnomad_exomes_ac": 2,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.36000001430511475,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.048,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_138621.5",
"gene_symbol": "BCL2L11",
"hgnc_id": 994,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.40C>A",
"hgvs_p": "p.Arg14Arg"
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{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000645030.2",
"gene_symbol": "MIR4435-2HG",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.453-86863G>T",
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},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000715207.1",
"gene_symbol": "ENSG00000293584",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*20C>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}