← 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: 2-210600632-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=210600632&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 210600632,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001369256.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Ala543Thr",
"transcript": "NM_001875.5",
"protein_id": "NP_001866.2",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1627,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000233072.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001875.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Ala543Thr",
"transcript": "ENST00000233072.10",
"protein_id": "ENSP00000233072.5",
"transcript_support_level": 1,
"aa_start": 543,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1627,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001875.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233072.10"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.1645G>A",
"hgvs_p": "p.Ala549Thr",
"transcript": "ENST00000430249.7",
"protein_id": "ENSP00000402608.2",
"transcript_support_level": 1,
"aa_start": 549,
"aa_end": null,
"aa_length": 1506,
"cds_start": 1645,
"cds_end": null,
"cds_length": 4521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430249.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Ala92Thr",
"transcript": "ENST00000451903.3",
"protein_id": "ENSP00000406136.2",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 1049,
"cds_start": 274,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451903.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Ala543Thr",
"transcript": "ENST00000881564.1",
"protein_id": "ENSP00000551623.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1523,
"cds_start": 1627,
"cds_end": null,
"cds_length": 4572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881564.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Ala554Thr",
"transcript": "NM_001369256.1",
"protein_id": "NP_001356185.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 1511,
"cds_start": 1660,
"cds_end": null,
"cds_length": 4536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369256.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Ala543Thr",
"transcript": "NM_001122633.3",
"protein_id": "NP_001116105.2",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1627,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122633.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Ala543Thr",
"transcript": "NM_001369257.1",
"protein_id": "NP_001356186.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1627,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369257.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Ala543Thr",
"transcript": "ENST00000673510.1",
"protein_id": "ENSP00000500537.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1627,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673510.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Ala543Thr",
"transcript": "ENST00000673630.1",
"protein_id": "ENSP00000501073.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1627,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673630.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Ala543Thr",
"transcript": "ENST00000673711.1",
"protein_id": "ENSP00000501022.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1627,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673711.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Ala543Thr",
"transcript": "ENST00000881558.1",
"protein_id": "ENSP00000551617.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1627,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881558.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Ala543Thr",
"transcript": "ENST00000881559.1",
"protein_id": "ENSP00000551618.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1627,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881559.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Ala543Thr",
"transcript": "ENST00000881560.1",
"protein_id": "ENSP00000551619.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1627,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881560.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Ala543Thr",
"transcript": "ENST00000881561.1",
"protein_id": "ENSP00000551620.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1627,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881561.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Ala543Thr",
"transcript": "ENST00000881562.1",
"protein_id": "ENSP00000551621.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1627,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881562.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Ala543Thr",
"transcript": "ENST00000881563.1",
"protein_id": "ENSP00000551622.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1627,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881563.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Ala543Thr",
"transcript": "ENST00000921372.1",
"protein_id": "ENSP00000591431.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1627,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921372.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Ala543Thr",
"transcript": "ENST00000921373.1",
"protein_id": "ENSP00000591432.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1627,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921373.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "c.1627G>A",
"hgvs_p": "p.Ala543Thr",
"transcript": "ENST00000965726.1",
"protein_id": "ENSP00000635785.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1627,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965726.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "n.106G>A",
"hgvs_p": null,
"transcript": "ENST00000673698.1",
"protein_id": "ENSP00000501214.1",
"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": "ENST00000673698.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "n.772G>A",
"hgvs_p": null,
"transcript": "ENST00000674074.1",
"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": "ENST00000674074.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "n.2536G>A",
"hgvs_p": null,
"transcript": "NR_161225.1",
"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": "NR_161225.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"hgvs_c": "n.783G>A",
"hgvs_p": null,
"transcript": "NR_163592.1",
"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": "NR_163592.1"
}
],
"gene_symbol": "CPS1",
"gene_hgnc_id": 2323,
"dbsnp": "rs142369181",
"frequency_reference_population": 0.000057683577,
"hom_count_reference_population": 0,
"allele_count_reference_population": 93,
"gnomad_exomes_af": 0.0000575224,
"gnomad_genomes_af": 0.0000592323,
"gnomad_exomes_ac": 84,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6613204479217529,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.551,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2307,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.454,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_001369256.1",
"gene_symbol": "CPS1",
"hgnc_id": 2323,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Ala554Thr"
}
],
"clinvar_disease": " neonatal, susceptibility to, type I,Congenital hyperammonemia,Pulmonary hypertension",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Congenital hyperammonemia, type I|Congenital hyperammonemia, type I;Pulmonary hypertension, neonatal, susceptibility to",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}