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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-120526815-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=120526815&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 120526815,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_003588.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.2634G>A",
"hgvs_p": "p.Arg878Arg",
"transcript": "NM_001079872.2",
"protein_id": "NP_001073341.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 895,
"cds_start": 2634,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371322.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001079872.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.2634G>A",
"hgvs_p": "p.Arg878Arg",
"transcript": "ENST00000371322.11",
"protein_id": "ENSP00000360373.5",
"transcript_support_level": 1,
"aa_start": 878,
"aa_end": null,
"aa_length": 895,
"cds_start": 2634,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001079872.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371322.11"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.2748G>A",
"hgvs_p": "p.Arg916Arg",
"transcript": "ENST00000681206.1",
"protein_id": "ENSP00000505480.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 933,
"cds_start": 2748,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681206.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.2688G>A",
"hgvs_p": "p.Arg896Arg",
"transcript": "ENST00000680673.1",
"protein_id": "ENSP00000505084.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 913,
"cds_start": 2688,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680673.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.2688G>A",
"hgvs_p": "p.Arg896Arg",
"transcript": "ENST00000681253.1",
"protein_id": "ENSP00000506259.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 913,
"cds_start": 2688,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681253.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.2688G>A",
"hgvs_p": "p.Arg896Arg",
"transcript": "ENST00000681652.1",
"protein_id": "ENSP00000505176.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 913,
"cds_start": 2688,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681652.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.2649G>A",
"hgvs_p": "p.Arg883Arg",
"transcript": "ENST00000336592.11",
"protein_id": "ENSP00000338919.6",
"transcript_support_level": 5,
"aa_start": 883,
"aa_end": null,
"aa_length": 900,
"cds_start": 2649,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336592.11"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.2640G>A",
"hgvs_p": "p.Arg880Arg",
"transcript": "ENST00000674137.11",
"protein_id": "ENSP00000501019.6",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 897,
"cds_start": 2640,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674137.11"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.2541G>A",
"hgvs_p": "p.Arg847Arg",
"transcript": "ENST00000681090.1",
"protein_id": "ENSP00000506288.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 864,
"cds_start": 2541,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681090.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.2481G>A",
"hgvs_p": "p.Arg827Arg",
"transcript": "ENST00000404115.8",
"protein_id": "ENSP00000384109.4",
"transcript_support_level": 1,
"aa_start": 827,
"aa_end": null,
"aa_length": 844,
"cds_start": 2481,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404115.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.2289G>A",
"hgvs_p": "p.Arg763Arg",
"transcript": "ENST00000679927.1",
"protein_id": "ENSP00000505603.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 780,
"cds_start": 2289,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679927.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.2100G>A",
"hgvs_p": "p.Arg700Arg",
"transcript": "ENST00000371323.3",
"protein_id": "ENSP00000360374.3",
"transcript_support_level": 5,
"aa_start": 700,
"aa_end": null,
"aa_length": 717,
"cds_start": 2100,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371323.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1971G>A",
"hgvs_p": "p.Arg657Arg",
"transcript": "ENST00000679844.1",
"protein_id": "ENSP00000505239.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 674,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679844.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.*80G>A",
"hgvs_p": null,
"transcript": "ENST00000680474.1",
"protein_id": "ENSP00000505562.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 685,
"cds_start": null,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680474.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.*2081G>A",
"hgvs_p": null,
"transcript": "ENST00000673919.1",
"protein_id": "ENSP00000500994.1",
"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": "ENST00000673919.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.*190G>A",
"hgvs_p": null,
"transcript": "ENST00000674073.2",
"protein_id": "ENSP00000501262.2",
"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": "ENST00000674073.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.*1843G>A",
"hgvs_p": null,
"transcript": "ENST00000679405.1",
"protein_id": "ENSP00000504985.1",
"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": "ENST00000679405.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.*1843G>A",
"hgvs_p": null,
"transcript": "ENST00000679432.1",
"protein_id": "ENSP00000505343.1",
"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": "ENST00000679432.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.*1550G>A",
"hgvs_p": null,
"transcript": "ENST00000680918.1",
"protein_id": "ENSP00000505955.1",
"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": "ENST00000680918.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.*1843G>A",
"hgvs_p": null,
"transcript": "ENST00000681080.1",
"protein_id": "ENSP00000505898.1",
"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": "ENST00000681080.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.*800G>A",
"hgvs_p": null,
"transcript": "ENST00000681189.1",
"protein_id": "ENSP00000505973.1",
"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": "ENST00000681189.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.*3527G>A",
"hgvs_p": null,
"transcript": "ENST00000681333.1",
"protein_id": "ENSP00000505739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
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"feature": "ENST00000681487.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.665G>A",
"hgvs_p": null,
"transcript": "ENST00000681706.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000681706.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.5222G>A",
"hgvs_p": null,
"transcript": "ENST00000681864.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000681864.1"
}
],
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"dbsnp": "rs143580749",
"frequency_reference_population": 0.0006819097,
"hom_count_reference_population": 185,
"allele_count_reference_population": 815,
"gnomad_exomes_af": 0.000382131,
"gnomad_genomes_af": 0.00358753,
"gnomad_exomes_ac": 414,
"gnomad_genomes_ac": 401,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3799999952316284,
"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": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.118,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003588.4",
"gene_symbol": "CUL4B",
"hgnc_id": 2555,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.2688G>A",
"hgvs_p": "p.Arg896Arg"
}
],
"clinvar_disease": "Inborn genetic diseases,X-linked intellectual disability Cabezas type,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|X-linked intellectual disability Cabezas type|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}