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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: X-72301959-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=72301959&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 72301959,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001144885.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.346G>C",
"hgvs_p": "p.Gly116Arg",
"transcript": "NM_001144887.2",
"protein_id": "NP_001138359.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 193,
"cds_start": 346,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000651998.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144887.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.346G>C",
"hgvs_p": "p.Gly116Arg",
"transcript": "ENST00000651998.1",
"protein_id": "ENSP00000499148.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 193,
"cds_start": 346,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001144887.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651998.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285547",
"gene_hgnc_id": null,
"hgvs_c": "c.1522G>C",
"hgvs_p": "p.Gly508Arg",
"transcript": "ENST00000648922.1",
"protein_id": "ENSP00000497072.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 555,
"cds_start": 1522,
"cds_end": null,
"cds_length": 1670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648922.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.346G>C",
"hgvs_p": "p.Gly116Arg",
"transcript": "ENST00000246139.9",
"protein_id": "ENSP00000246139.5",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 193,
"cds_start": 346,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000246139.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.346G>C",
"hgvs_p": "p.Gly116Arg",
"transcript": "ENST00000373619.7",
"protein_id": "ENSP00000362721.3",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 193,
"cds_start": 346,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373619.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.424G>C",
"hgvs_p": "p.Gly142Arg",
"transcript": "NM_001144885.2",
"protein_id": "NP_001138357.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 219,
"cds_start": 424,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144885.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.424G>C",
"hgvs_p": "p.Gly142Arg",
"transcript": "ENST00000431381.5",
"protein_id": "ENSP00000388548.1",
"transcript_support_level": 2,
"aa_start": 142,
"aa_end": null,
"aa_length": 219,
"cds_start": 424,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431381.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.424G>C",
"hgvs_p": "p.Gly142Arg",
"transcript": "ENST00000453707.6",
"protein_id": "ENSP00000401764.2",
"transcript_support_level": 3,
"aa_start": 142,
"aa_end": null,
"aa_length": 219,
"cds_start": 424,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453707.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.346G>C",
"hgvs_p": "p.Gly116Arg",
"transcript": "NM_001144886.2",
"protein_id": "NP_001138358.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 193,
"cds_start": 346,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144886.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.346G>C",
"hgvs_p": "p.Gly116Arg",
"transcript": "NM_004143.4",
"protein_id": "NP_004134.2",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 193,
"cds_start": 346,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004143.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.346G>C",
"hgvs_p": "p.Gly116Arg",
"transcript": "ENST00000445983.5",
"protein_id": "ENSP00000403274.1",
"transcript_support_level": 2,
"aa_start": 116,
"aa_end": null,
"aa_length": 193,
"cds_start": 346,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445983.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.346G>C",
"hgvs_p": "p.Gly116Arg",
"transcript": "ENST00000940527.1",
"protein_id": "ENSP00000610586.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 193,
"cds_start": 346,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940527.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.346G>C",
"hgvs_p": "p.Gly116Arg",
"transcript": "ENST00000940528.1",
"protein_id": "ENSP00000610587.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 193,
"cds_start": 346,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940528.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.346G>C",
"hgvs_p": "p.Gly116Arg",
"transcript": "ENST00000940529.1",
"protein_id": "ENSP00000610588.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 193,
"cds_start": 346,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940529.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.346G>C",
"hgvs_p": "p.Gly116Arg",
"transcript": "ENST00000940530.1",
"protein_id": "ENSP00000610589.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 193,
"cds_start": 346,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940530.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.346G>C",
"hgvs_p": "p.Gly116Arg",
"transcript": "ENST00000940531.1",
"protein_id": "ENSP00000610590.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 193,
"cds_start": 346,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940531.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.346G>C",
"hgvs_p": "p.Gly116Arg",
"transcript": "ENST00000940532.1",
"protein_id": "ENSP00000610591.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 193,
"cds_start": 346,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940532.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.346G>C",
"hgvs_p": "p.Gly116Arg",
"transcript": "ENST00000417400.1",
"protein_id": "ENSP00000414781.1",
"transcript_support_level": 2,
"aa_start": 116,
"aa_end": null,
"aa_length": 139,
"cds_start": 346,
"cds_end": null,
"cds_length": 422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417400.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.166-84G>C",
"hgvs_p": null,
"transcript": "ENST00000429794.1",
"protein_id": "ENSP00000407496.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": null,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429794.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285547",
"gene_hgnc_id": null,
"hgvs_c": "n.*1275G>C",
"hgvs_p": null,
"transcript": "ENST00000647613.1",
"protein_id": "ENSP00000497911.1",
"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": "ENST00000647613.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"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": "ENSG00000285547",
"gene_hgnc_id": null,
"hgvs_c": "n.*1275G>C",
"hgvs_p": null,
"transcript": "ENST00000647613.1",
"protein_id": "ENSP00000497911.1",
"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": "ENST00000647613.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PIN4",
"gene_hgnc_id": 8992,
"hgvs_c": "n.*195+307C>G",
"hgvs_p": null,
"transcript": "ENST00000439980.7",
"protein_id": "ENSP00000394066.3",
"transcript_support_level": 4,
"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": "ENST00000439980.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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{
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{
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],
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Likely_benign",
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"effects": [
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{
"score": -2,
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"verdict": "Likely_benign",
"transcript": "ENST00000648922.1",
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"hgvs_c": "c.1522G>C",
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{
"score": -2,
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"verdict": "Likely_benign",
"transcript": "ENST00000439980.7",
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],
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"hgvs_c": "n.*195+307C>G",
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}