← Back to variant description
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-72302842-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=72302842&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 72302842,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001144885.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Asp10Asn",
"transcript": "NM_001144887.2",
"protein_id": "NP_001138359.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 193,
"cds_start": 28,
"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": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Asp10Asn",
"transcript": "ENST00000651998.1",
"protein_id": "ENSP00000499148.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 193,
"cds_start": 28,
"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": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285547",
"gene_hgnc_id": null,
"hgvs_c": "c.1204G>A",
"hgvs_p": "p.Asp402Asn",
"transcript": "ENST00000648922.1",
"protein_id": "ENSP00000497072.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 555,
"cds_start": 1204,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Asp10Asn",
"transcript": "ENST00000246139.9",
"protein_id": "ENSP00000246139.5",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 193,
"cds_start": 28,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Asp10Asn",
"transcript": "ENST00000373619.7",
"protein_id": "ENSP00000362721.3",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 193,
"cds_start": 28,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Asp36Asn",
"transcript": "NM_001144885.2",
"protein_id": "NP_001138357.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 219,
"cds_start": 106,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Asp36Asn",
"transcript": "ENST00000431381.5",
"protein_id": "ENSP00000388548.1",
"transcript_support_level": 2,
"aa_start": 36,
"aa_end": null,
"aa_length": 219,
"cds_start": 106,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Asp36Asn",
"transcript": "ENST00000453707.6",
"protein_id": "ENSP00000401764.2",
"transcript_support_level": 3,
"aa_start": 36,
"aa_end": null,
"aa_length": 219,
"cds_start": 106,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Asp10Asn",
"transcript": "NM_001144886.2",
"protein_id": "NP_001138358.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 193,
"cds_start": 28,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Asp10Asn",
"transcript": "NM_004143.4",
"protein_id": "NP_004134.2",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 193,
"cds_start": 28,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Asp10Asn",
"transcript": "ENST00000445983.5",
"protein_id": "ENSP00000403274.1",
"transcript_support_level": 2,
"aa_start": 10,
"aa_end": null,
"aa_length": 193,
"cds_start": 28,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Asp10Asn",
"transcript": "ENST00000940527.1",
"protein_id": "ENSP00000610586.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 193,
"cds_start": 28,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Asp10Asn",
"transcript": "ENST00000940528.1",
"protein_id": "ENSP00000610587.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 193,
"cds_start": 28,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Asp10Asn",
"transcript": "ENST00000940529.1",
"protein_id": "ENSP00000610588.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 193,
"cds_start": 28,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Asp10Asn",
"transcript": "ENST00000940530.1",
"protein_id": "ENSP00000610589.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 193,
"cds_start": 28,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Asp10Asn",
"transcript": "ENST00000940531.1",
"protein_id": "ENSP00000610590.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 193,
"cds_start": 28,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Asp10Asn",
"transcript": "ENST00000940532.1",
"protein_id": "ENSP00000610591.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 193,
"cds_start": 28,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Asp10Asn",
"transcript": "ENST00000417400.1",
"protein_id": "ENSP00000414781.1",
"transcript_support_level": 2,
"aa_start": 10,
"aa_end": null,
"aa_length": 139,
"cds_start": 28,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Asp36Asn",
"transcript": "ENST00000427412.5",
"protein_id": "ENSP00000391407.1",
"transcript_support_level": 2,
"aa_start": 36,
"aa_end": null,
"aa_length": 137,
"cds_start": 106,
"cds_end": null,
"cds_length": 415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427412.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Asp36Asn",
"transcript": "ENST00000450875.5",
"protein_id": "ENSP00000405765.1",
"transcript_support_level": 2,
"aa_start": 36,
"aa_end": null,
"aa_length": 108,
"cds_start": 106,
"cds_end": null,
"cds_length": 329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450875.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Asp9Asn",
"transcript": "ENST00000429794.1",
"protein_id": "ENSP00000407496.1",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 105,
"cds_start": 25,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Asp36Asn",
"transcript": "ENST00000454225.1",
"protein_id": "ENSP00000412769.1",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 58,
"cds_start": 106,
"cds_end": null,
"cds_length": 177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454225.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIN4",
"gene_hgnc_id": 8992,
"hgvs_c": "n.*217C>T",
"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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285547",
"gene_hgnc_id": null,
"hgvs_c": "n.*957G>A",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIN4",
"gene_hgnc_id": 8992,
"hgvs_c": "n.*217C>T",
"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": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285547",
"gene_hgnc_id": null,
"hgvs_c": "n.*957G>A",
"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"
}
],
"gene_symbol": "CITED1",
"gene_hgnc_id": 1986,
"dbsnp": "rs774466084",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2265685498714447,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.133,
"revel_prediction": "Benign",
"alphamissense_score": 0.2143,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.941,
"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,BP6",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_001144885.2",
"gene_symbol": "CITED1",
"hgnc_id": 1986,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.106G>A",
"hgvs_p": "p.Asp36Asn"
},
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000648922.1",
"gene_symbol": "ENSG00000285547",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1204G>A",
"hgvs_p": "p.Asp402Asn"
},
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000439980.7",
"gene_symbol": "PIN4",
"hgnc_id": 8992,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*217C>T",
"hgvs_p": null
}
],
"clinvar_disease": "EBV-positive nodal T- and NK-cell lymphoma",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "EBV-positive nodal T- and NK-cell lymphoma",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}