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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: 14-58487027-GC-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=58487027&ref=GC&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 58487027,
"ref": "GC",
"alt": "AG",
"effect": "missense_variant",
"transcript": "NM_001244189.2",
"consequences": [
{
"aa_ref": "LP",
"aa_alt": "LA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3165_3166delGCinsAG",
"hgvs_p": "p.Pro1056Ala",
"transcript": "NM_001329943.3",
"protein_id": "NP_001316872.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1548,
"cds_start": 3165,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000652326.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329943.3"
},
{
"aa_ref": "LP",
"aa_alt": "LA",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3165_3166delGCinsAG",
"hgvs_p": "p.Pro1056Ala",
"transcript": "ENST00000652326.2",
"protein_id": "ENSP00000498929.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1548,
"cds_start": 3165,
"cds_end": null,
"cds_length": 4647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001329943.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652326.2"
},
{
"aa_ref": "LP",
"aa_alt": "LA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3120_3121delGCinsAG",
"hgvs_p": "p.Pro1041Ala",
"transcript": "ENST00000619416.4",
"protein_id": "ENSP00000478083.1",
"transcript_support_level": 1,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3120,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619416.4"
},
{
"aa_ref": "LP",
"aa_alt": "LA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3033_3034delGCinsAG",
"hgvs_p": "p.Pro1012Ala",
"transcript": "ENST00000423743.7",
"protein_id": "ENSP00000399427.3",
"transcript_support_level": 1,
"aa_start": 1011,
"aa_end": null,
"aa_length": 1504,
"cds_start": 3033,
"cds_end": null,
"cds_length": 4515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423743.7"
},
{
"aa_ref": "LP",
"aa_alt": "LA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2937_2938delGCinsAG",
"hgvs_p": "p.Pro980Ala",
"transcript": "ENST00000261244.9",
"protein_id": "ENSP00000261244.5",
"transcript_support_level": 1,
"aa_start": 979,
"aa_end": null,
"aa_length": 1472,
"cds_start": 2937,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261244.9"
},
{
"aa_ref": "LP",
"aa_alt": "LA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3324_3325delGCinsAG",
"hgvs_p": "p.Pro1109Ala",
"transcript": "NM_001244189.2",
"protein_id": "NP_001231118.1",
"transcript_support_level": null,
"aa_start": 1108,
"aa_end": null,
"aa_length": 1644,
"cds_start": 3324,
"cds_end": null,
"cds_length": 4935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244189.2"
},
{
"aa_ref": "LP",
"aa_alt": "LA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3324_3325delGCinsAG",
"hgvs_p": "p.Pro1109Ala",
"transcript": "ENST00000354386.10",
"protein_id": "ENSP00000346359.6",
"transcript_support_level": 2,
"aa_start": 1108,
"aa_end": null,
"aa_length": 1644,
"cds_start": 3324,
"cds_end": null,
"cds_length": 4935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354386.10"
},
{
"aa_ref": "LP",
"aa_alt": "LA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3165_3166delGCinsAG",
"hgvs_p": "p.Pro1056Ala",
"transcript": "NM_001329944.2",
"protein_id": "NP_001316873.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1591,
"cds_start": 3165,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329944.2"
},
{
"aa_ref": "LP",
"aa_alt": "LA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3120_3121delGCinsAG",
"hgvs_p": "p.Pro1041Ala",
"transcript": "NM_001244190.2",
"protein_id": "NP_001231119.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1533,
"cds_start": 3120,
"cds_end": null,
"cds_length": 4602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244190.2"
},
{
"aa_ref": "LP",
"aa_alt": "LA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3165_3166delGCinsAG",
"hgvs_p": "p.Pro1056Ala",
"transcript": "NM_001329946.2",
"protein_id": "NP_001316875.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1526,
"cds_start": 3165,
"cds_end": null,
"cds_length": 4581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329946.2"
},
{
"aa_ref": "LP",
"aa_alt": "LA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3084_3085delGCinsAG",
"hgvs_p": "p.Pro1029Ala",
"transcript": "ENST00000650904.1",
"protein_id": "ENSP00000498606.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1521,
"cds_start": 3084,
"cds_end": null,
"cds_length": 4566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650904.1"
},
{
"aa_ref": "LP",
"aa_alt": "LA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3033_3034delGCinsAG",
"hgvs_p": "p.Pro1012Ala",
"transcript": "NM_001244192.2",
"protein_id": "NP_001231121.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 1504,
"cds_start": 3033,
"cds_end": null,
"cds_length": 4515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244192.2"
},
{
"aa_ref": "LP",
"aa_alt": "LA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.3165_3166delGCinsAG",
"hgvs_p": "p.Pro1056Ala",
"transcript": "NM_001329947.2",
"protein_id": "NP_001316876.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1504,
"cds_start": 3165,
"cds_end": null,
"cds_length": 4515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329947.2"
},
{
"aa_ref": "LP",
"aa_alt": "LA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2937_2938delGCinsAG",
"hgvs_p": "p.Pro980Ala",
"transcript": "NM_014749.5",
"protein_id": "NP_055564.3",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 1472,
"cds_start": 2937,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014749.5"
},
{
"aa_ref": "LP",
"aa_alt": "LA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2910_2911delGCinsAG",
"hgvs_p": "p.Pro971Ala",
"transcript": "NM_001244191.2",
"protein_id": "NP_001231120.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1463,
"cds_start": 2910,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244191.2"
},
{
"aa_ref": "LP",
"aa_alt": "LA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2910_2911delGCinsAG",
"hgvs_p": "p.Pro971Ala",
"transcript": "NM_001364701.2",
"protein_id": "NP_001351630.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1463,
"cds_start": 2910,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364701.2"
},
{
"aa_ref": "LP",
"aa_alt": "LA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2910_2911delGCinsAG",
"hgvs_p": "p.Pro971Ala",
"transcript": "ENST00000619722.5",
"protein_id": "ENSP00000481936.1",
"transcript_support_level": 2,
"aa_start": 970,
"aa_end": null,
"aa_length": 1463,
"cds_start": 2910,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619722.5"
},
{
"aa_ref": "LP",
"aa_alt": "LA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2910_2911delGCinsAG",
"hgvs_p": "p.Pro971Ala",
"transcript": "NM_001329945.2",
"protein_id": "NP_001316874.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1441,
"cds_start": 2910,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329945.2"
},
{
"aa_ref": "LP",
"aa_alt": "LA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2910_2911delGCinsAG",
"hgvs_p": "p.Pro971Ala",
"transcript": "NM_001364700.1",
"protein_id": "NP_001351629.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1401,
"cds_start": 2910,
"cds_end": null,
"cds_length": 4206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364700.1"
},
{
"aa_ref": "LP",
"aa_alt": "LA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.2745_2746delGCinsAG",
"hgvs_p": "p.Pro916Ala",
"transcript": "NM_001244193.2",
"protein_id": "NP_001231122.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 1347,
"cds_start": 2745,
"cds_end": null,
"cds_length": 4044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244193.2"
},
{
"aa_ref": "LP",
"aa_alt": "LA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "c.1269_1270delGCinsAG",
"hgvs_p": "p.Pro424Ala",
"transcript": "ENST00000652414.1",
"protein_id": "ENSP00000498397.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 854,
"cds_start": 1269,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652414.1"
},
{
"aa_ref": "LP",
"aa_alt": "LA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
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{
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{
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],
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},
{
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},
{
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],
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{
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},
{
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"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 8,
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"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"hgvs_c": "n.-88_-87delGCinsAG",
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"transcript": "ENST00000651596.1",
"protein_id": "ENSP00000498838.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651596.1"
}
],
"gene_symbol": "KIAA0586",
"gene_hgnc_id": 19960,
"dbsnp": "rs386777947",
"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,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.522,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001244189.2",
"gene_symbol": "KIAA0586",
"hgnc_id": 19960,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3324_3325delGCinsAG",
"hgvs_p": "p.Pro1109Ala"
}
],
"clinvar_disease": "Joubert syndrome 23,Short-rib thoracic dysplasia 14 with polydactyly",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Joubert syndrome 23;Short-rib thoracic dysplasia 14 with polydactyly",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}