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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: 16-69320768-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=69320768&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 69320768,
"ref": "A",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_013245.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS4A",
"gene_hgnc_id": 13488,
"hgvs_c": "c.850A>T",
"hgvs_p": "p.Arg284Trp",
"transcript": "NM_013245.3",
"protein_id": "NP_037377.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 437,
"cds_start": 850,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000254950.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013245.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS4A",
"gene_hgnc_id": 13488,
"hgvs_c": "c.850A>T",
"hgvs_p": "p.Arg284Trp",
"transcript": "ENST00000254950.13",
"protein_id": "ENSP00000254950.11",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 437,
"cds_start": 850,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013245.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254950.13"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260914",
"gene_hgnc_id": null,
"hgvs_c": "c.922A>T",
"hgvs_p": "p.Arg308Trp",
"transcript": "ENST00000570054.3",
"protein_id": "ENSP00000461295.3",
"transcript_support_level": 5,
"aa_start": 308,
"aa_end": null,
"aa_length": 427,
"cds_start": 922,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570054.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS4A",
"gene_hgnc_id": 13488,
"hgvs_c": "c.847A>T",
"hgvs_p": "p.Arg283Trp",
"transcript": "ENST00000714474.1",
"protein_id": "ENSP00000519731.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 436,
"cds_start": 847,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714474.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS4A",
"gene_hgnc_id": 13488,
"hgvs_c": "c.802A>T",
"hgvs_p": "p.Arg268Trp",
"transcript": "ENST00000907004.1",
"protein_id": "ENSP00000577063.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 421,
"cds_start": 802,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907004.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS4A",
"gene_hgnc_id": 13488,
"hgvs_c": "c.850A>T",
"hgvs_p": "p.Ser284Cys",
"transcript": "ENST00000949392.1",
"protein_id": "ENSP00000619451.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 402,
"cds_start": 850,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949392.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS4A",
"gene_hgnc_id": 13488,
"hgvs_c": "c.730A>T",
"hgvs_p": "p.Arg244Trp",
"transcript": "ENST00000949393.1",
"protein_id": "ENSP00000619452.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 397,
"cds_start": 730,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949393.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS4A",
"gene_hgnc_id": 13488,
"hgvs_c": "c.727A>T",
"hgvs_p": "p.Arg243Trp",
"transcript": "ENST00000714473.1",
"protein_id": "ENSP00000519730.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 396,
"cds_start": 727,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714473.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS4A",
"gene_hgnc_id": 13488,
"hgvs_c": "c.850A>T",
"hgvs_p": "p.Arg284Trp",
"transcript": "ENST00000949394.1",
"protein_id": "ENSP00000619453.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 390,
"cds_start": 850,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949394.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS4A",
"gene_hgnc_id": 13488,
"hgvs_c": "c.850A>T",
"hgvs_p": "p.Arg284Trp",
"transcript": "ENST00000714476.1",
"protein_id": "ENSP00000519733.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 364,
"cds_start": 850,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714476.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS4A",
"gene_hgnc_id": 13488,
"hgvs_c": "c.511A>T",
"hgvs_p": "p.Arg171Trp",
"transcript": "ENST00000714477.1",
"protein_id": "ENSP00000519734.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 324,
"cds_start": 511,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714477.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS4A",
"gene_hgnc_id": 13488,
"hgvs_c": "c.511A>T",
"hgvs_p": "p.Arg171Trp",
"transcript": "ENST00000714480.1",
"protein_id": "ENSP00000519737.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 324,
"cds_start": 511,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714480.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS4A",
"gene_hgnc_id": 13488,
"hgvs_c": "c.511A>T",
"hgvs_p": "p.Arg171Trp",
"transcript": "ENST00000714482.1",
"protein_id": "ENSP00000519739.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 324,
"cds_start": 511,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714482.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS4A",
"gene_hgnc_id": 13488,
"hgvs_c": "c.511A>T",
"hgvs_p": "p.Arg171Trp",
"transcript": "ENST00000714483.1",
"protein_id": "ENSP00000519740.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 324,
"cds_start": 511,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714483.1"
},
{
"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": "VPS4A",
"gene_hgnc_id": 13488,
"hgvs_c": "n.285A>T",
"hgvs_p": null,
"transcript": "ENST00000562754.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000562754.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "COG8",
"gene_hgnc_id": 18623,
"hgvs_c": "n.308T>A",
"hgvs_p": null,
"transcript": "ENST00000564419.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000564419.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS4A",
"gene_hgnc_id": 13488,
"hgvs_c": "n.*569A>T",
"hgvs_p": null,
"transcript": "ENST00000714472.1",
"protein_id": "ENSP00000519729.1",
"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": "ENST00000714472.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS4A",
"gene_hgnc_id": 13488,
"hgvs_c": "n.850A>T",
"hgvs_p": null,
"transcript": "ENST00000714475.1",
"protein_id": "ENSP00000519732.1",
"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": "ENST00000714475.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS4A",
"gene_hgnc_id": 13488,
"hgvs_c": "n.*810A>T",
"hgvs_p": null,
"transcript": "ENST00000714478.1",
"protein_id": "ENSP00000519735.1",
"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": "ENST00000714478.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS4A",
"gene_hgnc_id": 13488,
"hgvs_c": "n.850A>T",
"hgvs_p": null,
"transcript": "ENST00000714479.1",
"protein_id": "ENSP00000519736.1",
"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": "ENST00000714479.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS4A",
"gene_hgnc_id": 13488,
"hgvs_c": "n.*258A>T",
"hgvs_p": null,
"transcript": "ENST00000714481.1",
"protein_id": "ENSP00000519738.1",
"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": "ENST00000714481.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS4A",
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{
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"dbsnp": "rs1965499910",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"computational_score_selected": 0.9887251853942871,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9079999923706055,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.802,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.28,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.998871853213909,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 13,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 13,
"benign_score": 0,
"pathogenic_score": 13,
"criteria": [
"PM2",
"PM5",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_013245.3",
"gene_symbol": "VPS4A",
"hgnc_id": 13488,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.850A>T",
"hgvs_p": "p.Arg284Trp"
},
{
"score": 13,
"benign_score": 0,
"pathogenic_score": 13,
"criteria": [
"PM2",
"PM5",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000570054.3",
"gene_symbol": "ENSG00000260914",
"hgnc_id": null,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.922A>T",
"hgvs_p": "p.Arg308Trp"
},
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM2",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000564419.1",
"gene_symbol": "COG8",
"hgnc_id": 18623,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.308T>A",
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}
],
"clinvar_disease": "Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome,Syndromic congenital hemolytic and dyserythropoietic anemia,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "not provided|Syndromic congenital hemolytic and dyserythropoietic anemia|Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}