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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: 1-40984951-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=40984951&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 40984951,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000650070.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Asn99Asn",
"transcript": "NM_001905.4",
"protein_id": "NP_001896.2",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 591,
"cds_start": 297,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 2840,
"mane_select": "ENST00000650070.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Asn99Asn",
"transcript": "ENST00000650070.2",
"protein_id": "ENSP00000497602.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 591,
"cds_start": 297,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 2840,
"mane_select": "NM_001905.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Asn99Asn",
"transcript": "ENST00000372616.1",
"protein_id": "ENSP00000361699.1",
"transcript_support_level": 2,
"aa_start": 99,
"aa_end": null,
"aa_length": 591,
"cds_start": 297,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Asn99Asn",
"transcript": "ENST00000470271.6",
"protein_id": "ENSP00000497901.2",
"transcript_support_level": 3,
"aa_start": 99,
"aa_end": null,
"aa_length": 591,
"cds_start": 297,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 3212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Asn99Asn",
"transcript": "ENST00000649124.2",
"protein_id": "ENSP00000497744.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 591,
"cds_start": 297,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 2972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Asn99Asn",
"transcript": "ENST00000649864.1",
"protein_id": "ENSP00000496792.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 564,
"cds_start": 297,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 4790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Asn99Asn",
"transcript": "ENST00000463285.7",
"protein_id": "ENSP00000497762.1",
"transcript_support_level": 3,
"aa_start": 99,
"aa_end": null,
"aa_length": 461,
"cds_start": 297,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "c.318C>T",
"hgvs_p": "p.Asn106Asn",
"transcript": "XM_024453552.2",
"protein_id": "XP_024309320.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 598,
"cds_start": 318,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 4109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "c.318C>T",
"hgvs_p": "p.Asn106Asn",
"transcript": "XM_047447461.1",
"protein_id": "XP_047303417.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 598,
"cds_start": 318,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Asn99Asn",
"transcript": "XM_024453553.2",
"protein_id": "XP_024309321.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 591,
"cds_start": 297,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 3238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Asn99Asn",
"transcript": "XM_024453554.1",
"protein_id": "XP_024309322.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 591,
"cds_start": 297,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "c.318C>T",
"hgvs_p": "p.Asn106Asn",
"transcript": "XM_047447469.1",
"protein_id": "XP_047303425.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 458,
"cds_start": 318,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Asn99Asn",
"transcript": "XM_047447471.1",
"protein_id": "XP_047303427.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 451,
"cds_start": 297,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "c.318C>T",
"hgvs_p": "p.Asn106Asn",
"transcript": "XM_024453561.2",
"protein_id": "XP_024309329.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 342,
"cds_start": 318,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 1578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Asn99Asn",
"transcript": "XM_047447472.1",
"protein_id": "XP_047303428.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 335,
"cds_start": 297,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 2339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "n.378C>T",
"hgvs_p": null,
"transcript": "ENST00000479480.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 1242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "n.452C>T",
"hgvs_p": null,
"transcript": "ENST00000480420.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "n.399C>T",
"hgvs_p": null,
"transcript": "ENST00000498694.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 2855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "n.297C>T",
"hgvs_p": null,
"transcript": "ENST00000648020.2",
"protein_id": "ENSP00000497714.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "n.383C>T",
"hgvs_p": null,
"transcript": "ENST00000648801.1",
"protein_id": null,
"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,
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"cdna_length": 4009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "n.297C>T",
"hgvs_p": null,
"transcript": "ENST00000648914.1",
"protein_id": "ENSP00000496963.1",
"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": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "n.434C>T",
"hgvs_p": null,
"transcript": "ENST00000650634.2",
"protein_id": null,
"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": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "n.297C>T",
"hgvs_p": null,
"transcript": "ENST00000696107.1",
"protein_id": "ENSP00000512401.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 3,
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"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
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"hgvs_c": "n.297C>T",
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"transcript": "ENST00000696108.1",
"protein_id": "ENSP00000512402.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "CTPS1",
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"hgvs_c": "n.659C>T",
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"transcript": "ENST00000696109.1",
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
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"hgvs_c": "n.444C>T",
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"transcript": "NR_125440.2",
"protein_id": null,
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"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"hgvs_c": "c.-139+5122C>T",
"hgvs_p": null,
"transcript": "ENST00000696070.1",
"protein_id": "ENSP00000512372.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": -4,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "CTPS1",
"gene_hgnc_id": 2519,
"dbsnp": "rs1553178673",
"frequency_reference_population": 0.0000027715687,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000277157,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.82,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000650070.2",
"gene_symbol": "CTPS1",
"hgnc_id": 2519,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.297C>T",
"hgvs_p": "p.Asn99Asn"
}
],
"clinvar_disease": "Severe combined immunodeficiency due to CTPS1 deficiency",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Severe combined immunodeficiency due to CTPS1 deficiency",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}