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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: 2-135168781-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=135168781&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 135168781,
"ref": "A",
"alt": "G",
"effect": "stop_lost",
"transcript": "NM_001172435.2",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.2946A>G",
"hgvs_p": "p.Ter982Trpext*?",
"transcript": "NM_012233.3",
"protein_id": "NP_036365.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 981,
"cds_start": 2946,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264158.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012233.3"
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.2946A>G",
"hgvs_p": "p.Ter982Trpext*?",
"transcript": "ENST00000264158.13",
"protein_id": "ENSP00000264158.8",
"transcript_support_level": 1,
"aa_start": 982,
"aa_end": null,
"aa_length": 981,
"cds_start": 2946,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012233.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264158.13"
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.2967A>G",
"hgvs_p": "p.Ter989Trpext*?",
"transcript": "ENST00000442034.5",
"protein_id": "ENSP00000411418.1",
"transcript_support_level": 1,
"aa_start": 989,
"aa_end": null,
"aa_length": 988,
"cds_start": 2967,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442034.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ZRANB3",
"gene_hgnc_id": 25249,
"hgvs_c": "n.1782-3627T>C",
"hgvs_p": null,
"transcript": "ENST00000412849.5",
"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": "ENST00000412849.5"
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.2967A>G",
"hgvs_p": "p.Ter989Trpext*?",
"transcript": "NM_001172435.2",
"protein_id": "NP_001165906.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 988,
"cds_start": 2967,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172435.2"
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.2949A>G",
"hgvs_p": "p.Ter983Trpext*?",
"transcript": "ENST00000970735.1",
"protein_id": "ENSP00000640794.1",
"transcript_support_level": null,
"aa_start": 983,
"aa_end": null,
"aa_length": 982,
"cds_start": 2949,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970735.1"
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.2940A>G",
"hgvs_p": "p.Ter980Trpext*?",
"transcript": "ENST00000855137.1",
"protein_id": "ENSP00000525196.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 979,
"cds_start": 2940,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855137.1"
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.2922A>G",
"hgvs_p": "p.Ter974Trpext*?",
"transcript": "ENST00000855134.1",
"protein_id": "ENSP00000525193.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 973,
"cds_start": 2922,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855134.1"
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.2745A>G",
"hgvs_p": "p.Ter915Trpext*?",
"transcript": "ENST00000855136.1",
"protein_id": "ENSP00000525195.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 914,
"cds_start": 2745,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855136.1"
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.2448A>G",
"hgvs_p": "p.Ter816Trpext*?",
"transcript": "ENST00000855135.1",
"protein_id": "ENSP00000525194.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 815,
"cds_start": 2448,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855135.1"
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.408A>G",
"hgvs_p": "p.Ter136Trpext*?",
"transcript": "ENST00000688182.1",
"protein_id": "ENSP00000509324.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 135,
"cds_start": 408,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688182.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ZRANB3",
"gene_hgnc_id": 25249,
"hgvs_c": "c.1618-3627T>C",
"hgvs_p": null,
"transcript": "ENST00000619650.4",
"protein_id": "ENSP00000480120.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 598,
"cds_start": null,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619650.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.2914+32A>G",
"hgvs_p": null,
"transcript": "XM_011510823.4",
"protein_id": "XP_011509125.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1024,
"cds_start": null,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510823.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.2914+32A>G",
"hgvs_p": null,
"transcript": "XM_011510825.4",
"protein_id": "XP_011509127.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 979,
"cds_start": null,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510825.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "c.1768+32A>G",
"hgvs_p": null,
"transcript": "XM_047443732.1",
"protein_id": "XP_047299688.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": null,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443732.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.3585A>G",
"hgvs_p": null,
"transcript": "ENST00000685652.1",
"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": "ENST00000685652.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.418A>G",
"hgvs_p": null,
"transcript": "ENST00000685874.1",
"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": "ENST00000685874.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*2403A>G",
"hgvs_p": null,
"transcript": "ENST00000685967.1",
"protein_id": "ENSP00000508423.1",
"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": "ENST00000685967.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*3035A>G",
"hgvs_p": null,
"transcript": "ENST00000687199.1",
"protein_id": "ENSP00000510319.1",
"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": "ENST00000687199.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.6128A>G",
"hgvs_p": null,
"transcript": "ENST00000688088.1",
"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": "ENST00000688088.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.2619A>G",
"hgvs_p": null,
"transcript": "ENST00000689187.1",
"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": "ENST00000689187.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.*2624A>G",
"hgvs_p": null,
"transcript": "ENST00000690208.1",
"protein_id": "ENSP00000510746.1",
"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,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000539493.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"hgvs_c": "n.2930+32A>G",
"hgvs_p": null,
"transcript": "XR_001738674.3",
"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": "XR_001738674.3"
}
],
"gene_symbol": "RAB3GAP1",
"gene_hgnc_id": 17063,
"dbsnp": "rs141436429",
"frequency_reference_population": 0.00047502958,
"hom_count_reference_population": 0,
"allele_count_reference_population": 765,
"gnomad_exomes_af": 0.00050332,
"gnomad_genomes_af": 0.0002038,
"gnomad_exomes_ac": 734,
"gnomad_genomes_ac": 31,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.75,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.711,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "PM4,BS1",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM4",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "NM_001172435.2",
"gene_symbol": "RAB3GAP1",
"hgnc_id": 17063,
"effects": [
"stop_lost"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2967A>G",
"hgvs_p": "p.Ter989Trpext*?"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000412849.5",
"gene_symbol": "ZRANB3",
"hgnc_id": 25249,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.1782-3627T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Martsolf syndrome 2,Warburg micro syndrome 1,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:8",
"phenotype_combined": "not provided|not specified|Martsolf syndrome 2;Warburg micro syndrome 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}