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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: 2-174824485-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=174824485&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 174824485,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001371514.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His",
"transcript": "NM_001822.7",
"protein_id": "NP_001813.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 459,
"cds_start": 661,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409900.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001822.7"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His",
"transcript": "ENST00000409900.9",
"protein_id": "ENSP00000386741.4",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 459,
"cds_start": 661,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001822.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409900.9"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Tyr96His",
"transcript": "ENST00000295497.13",
"protein_id": "ENSP00000295497.7",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 334,
"cds_start": 286,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295497.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "n.304T>C",
"hgvs_p": null,
"transcript": "ENST00000488080.6",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000488080.6"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.712T>C",
"hgvs_p": "p.Tyr238His",
"transcript": "NM_001371514.1",
"protein_id": "NP_001358443.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 476,
"cds_start": 712,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371514.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His",
"transcript": "ENST00000934192.1",
"protein_id": "ENSP00000604251.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 476,
"cds_start": 661,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934192.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.661T>C",
"hgvs_p": "p.Tyr221His",
"transcript": "NM_001371513.1",
"protein_id": "NP_001358442.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 459,
"cds_start": 661,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371513.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.583T>C",
"hgvs_p": "p.Tyr195His",
"transcript": "NM_001025201.4",
"protein_id": "NP_001020372.2",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 433,
"cds_start": 583,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025201.4"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.583T>C",
"hgvs_p": "p.Tyr195His",
"transcript": "ENST00000409156.7",
"protein_id": "ENSP00000386470.3",
"transcript_support_level": 2,
"aa_start": 195,
"aa_end": null,
"aa_length": 433,
"cds_start": 583,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409156.7"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.583T>C",
"hgvs_p": "p.Tyr195His",
"transcript": "ENST00000905596.1",
"protein_id": "ENSP00000575655.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 433,
"cds_start": 583,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905596.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Tyr96His",
"transcript": "ENST00000652036.1",
"protein_id": "ENSP00000499139.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 351,
"cds_start": 286,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652036.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Tyr96His",
"transcript": "NM_001206602.2",
"protein_id": "NP_001193531.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 334,
"cds_start": 286,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206602.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.253T>C",
"hgvs_p": "p.Tyr85His",
"transcript": "ENST00000651246.1",
"protein_id": "ENSP00000498484.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 323,
"cds_start": 253,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651246.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Tyr96His",
"transcript": "ENST00000444394.7",
"protein_id": "ENSP00000411911.2",
"transcript_support_level": 3,
"aa_start": 96,
"aa_end": null,
"aa_length": 321,
"cds_start": 286,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444394.7"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.139T>C",
"hgvs_p": "p.Tyr47His",
"transcript": "ENST00000443238.6",
"protein_id": "ENSP00000409798.2",
"transcript_support_level": 4,
"aa_start": 47,
"aa_end": null,
"aa_length": 285,
"cds_start": 139,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443238.6"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.115T>C",
"hgvs_p": "p.Tyr39His",
"transcript": "ENST00000413882.6",
"protein_id": "ENSP00000410496.2",
"transcript_support_level": 3,
"aa_start": 39,
"aa_end": null,
"aa_length": 277,
"cds_start": 115,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413882.6"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.109T>C",
"hgvs_p": "p.Tyr37His",
"transcript": "ENST00000409597.5",
"protein_id": "ENSP00000386469.1",
"transcript_support_level": 3,
"aa_start": 37,
"aa_end": null,
"aa_length": 275,
"cds_start": 109,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409597.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.184T>C",
"hgvs_p": "p.Tyr62His",
"transcript": "ENST00000650938.1",
"protein_id": "ENSP00000498385.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 254,
"cds_start": 184,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650938.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.505T>C",
"hgvs_p": "p.Tyr169His",
"transcript": "ENST00000444573.2",
"protein_id": "ENSP00000392603.2",
"transcript_support_level": 4,
"aa_start": 169,
"aa_end": null,
"aa_length": 238,
"cds_start": 505,
"cds_end": null,
"cds_length": 719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444573.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"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": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.175T>C",
"hgvs_p": "p.Tyr59His",
"transcript": "ENST00000651373.1",
"protein_id": "ENSP00000499174.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 82,
"cds_start": 175,
"cds_end": null,
"cds_length": 250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651373.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.-15T>C",
"hgvs_p": null,
"transcript": "ENST00000650731.1",
"protein_id": "ENSP00000499146.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": null,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650731.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.-15T>C",
"hgvs_p": null,
"transcript": "ENST00000409089.7",
"protein_id": "ENSP00000386322.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": null,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409089.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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"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": "ENST00000652674.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "n.*6T>C",
"hgvs_p": null,
"transcript": "ENST00000652734.1",
"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": "ENST00000652734.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "n.*6T>C",
"hgvs_p": null,
"transcript": "ENST00000652768.1",
"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": "ENST00000652768.1"
}
],
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"dbsnp": "rs1553475005",
"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": 0.4184942841529846,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.472,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8855,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.042,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP5_Moderate,BP4",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 1,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP5_Moderate",
"BP4"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001371514.1",
"gene_symbol": "CHN1",
"hgnc_id": 1943,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.712T>C",
"hgvs_p": "p.Tyr238His"
},
{
"score": 3,
"benign_score": 1,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000842845.1",
"gene_symbol": "ENSG00000236449",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.327-22446A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Duane retraction syndrome 2,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Duane retraction syndrome 2|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}