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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: 22-17189979-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=17189979&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 17189979,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000399837.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Arg312Pro",
"transcript": "NM_001282225.2",
"protein_id": "NP_001269154.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 511,
"cds_start": 935,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 4355,
"mane_select": "ENST00000399837.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Arg312Pro",
"transcript": "ENST00000399837.8",
"protein_id": "ENSP00000382731.2",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 511,
"cds_start": 935,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 4355,
"mane_select": "NM_001282225.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Arg312Pro",
"transcript": "ENST00000262607.3",
"protein_id": "ENSP00000262607.2",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 511,
"cds_start": 935,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 3925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Arg312Pro",
"transcript": "NM_001282226.2",
"protein_id": "NP_001269155.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 511,
"cds_start": 935,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 4322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Arg312Pro",
"transcript": "ENST00000399839.5",
"protein_id": "ENSP00000382733.1",
"transcript_support_level": 5,
"aa_start": 312,
"aa_end": null,
"aa_length": 511,
"cds_start": 935,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 3986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Arg312Pro",
"transcript": "ENST00000543038.2",
"protein_id": "ENSP00000442482.2",
"transcript_support_level": 2,
"aa_start": 312,
"aa_end": null,
"aa_length": 511,
"cds_start": 935,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 3810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Arg312Pro",
"transcript": "ENST00000649310.2",
"protein_id": "ENSP00000496839.2",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 511,
"cds_start": 935,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Arg312Pro",
"transcript": "ENST00000649746.2",
"protein_id": "ENSP00000497913.2",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 511,
"cds_start": 935,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 2039,
"cdna_end": null,
"cdna_length": 5333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Arg312Pro",
"transcript": "ENST00000696196.1",
"protein_id": "ENSP00000512479.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 511,
"cds_start": 935,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 4383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Arg312Pro",
"transcript": "ENST00000696197.1",
"protein_id": "ENSP00000512480.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 511,
"cds_start": 935,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 2059,
"cdna_end": null,
"cdna_length": 5353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.935G>C",
"hgvs_p": "p.Arg312Pro",
"transcript": "ENST00000696225.1",
"protein_id": "ENSP00000512491.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 511,
"cds_start": 935,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 4931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.809G>C",
"hgvs_p": "p.Arg270Pro",
"transcript": "NM_001282227.2",
"protein_id": "NP_001269156.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 469,
"cds_start": 809,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.809G>C",
"hgvs_p": "p.Arg270Pro",
"transcript": "NM_001282228.2",
"protein_id": "NP_001269157.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 469,
"cds_start": 809,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 4230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.809G>C",
"hgvs_p": "p.Arg270Pro",
"transcript": "ENST00000449907.8",
"protein_id": "ENSP00000406443.2",
"transcript_support_level": 2,
"aa_start": 270,
"aa_end": null,
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"cds_start": 809,
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"cdna_start": 1231,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.809G>C",
"hgvs_p": "p.Arg270Pro",
"transcript": "ENST00000649540.1",
"protein_id": "ENSP00000497469.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 469,
"cds_start": 809,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.575G>C",
"hgvs_p": "p.Arg192Pro",
"transcript": "NM_001282229.2",
"protein_id": "NP_001269158.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 391,
"cds_start": 575,
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"cdna_start": 693,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.575G>C",
"hgvs_p": "p.Arg192Pro",
"transcript": "ENST00000610390.5",
"protein_id": "ENSP00000483418.1",
"transcript_support_level": 5,
"aa_start": 192,
"aa_end": null,
"aa_length": 391,
"cds_start": 575,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 3987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.182G>C",
"hgvs_p": "p.Arg61Pro",
"transcript": "ENST00000696222.1",
"protein_id": "ENSP00000512488.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 359,
"cds_start": 182,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 1750,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.329G>C",
"hgvs_p": "p.Arg110Pro",
"transcript": "ENST00000696224.1",
"protein_id": "ENSP00000512490.1",
"transcript_support_level": null,
"aa_start": 110,
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"feature": null
},
{
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"aa_alt": "P",
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"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": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.182G>C",
"hgvs_p": "p.Arg61Pro",
"transcript": "ENST00000696223.1",
"protein_id": "ENSP00000512489.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
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"cds_start": 182,
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"cdna_start": 182,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.212G>C",
"hgvs_p": "p.Arg71Pro",
"transcript": "NM_177405.3",
"protein_id": "NP_803124.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
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"cds_start": 212,
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"cdna_start": 289,
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"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.212G>C",
"hgvs_p": "p.Arg71Pro",
"transcript": "ENST00000330232.9",
"protein_id": "ENSP00000332871.4",
"transcript_support_level": 2,
"aa_start": 71,
"aa_end": null,
"aa_length": 270,
"cds_start": 212,
"cds_end": null,
"cds_length": 813,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 3199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "ADA2",
"gene_hgnc_id": 1839,
"hgvs_c": "c.182G>C",
"hgvs_p": "p.Arg61Pro",
"transcript": "ENST00000696221.1",
"protein_id": "ENSP00000512487.1",
"transcript_support_level": null,
"aa_start": 61,
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}
],
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"dbsnp": "rs746970158",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"computational_score_selected": 0.9254270792007446,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.2199999988079071,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.597,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8316,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.851,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.22,
"spliceai_max_prediction": "Uncertain_significance",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000399837.8",
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"effects": [
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],
"inheritance_mode": "AR,AD",
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],
"clinvar_disease": "Vasculitis due to ADA2 deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Vasculitis due to ADA2 deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}