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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: 2-18576880-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=18576880&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 18576880,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001199103.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C1B",
"gene_hgnc_id": 17818,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346His",
"transcript": "NM_033253.4",
"protein_id": "NP_150278.2",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 550,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304081.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033253.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C1B",
"gene_hgnc_id": 17818,
"hgvs_c": "c.1037G>A",
"hgvs_p": "p.Arg346His",
"transcript": "ENST00000304081.9",
"protein_id": "ENSP00000305979.4",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 550,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033253.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304081.9"
},
{
"aa_ref": "R",
"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": "NT5C1B",
"gene_hgnc_id": 17818,
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406His",
"transcript": "ENST00000359846.6",
"protein_id": "ENSP00000352904.2",
"transcript_support_level": 1,
"aa_start": 406,
"aa_end": null,
"aa_length": 610,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359846.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C1B-RDH14",
"gene_hgnc_id": 38831,
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406His",
"transcript": "ENST00000532967.5",
"protein_id": "ENSP00000433415.1",
"transcript_support_level": 2,
"aa_start": 406,
"aa_end": null,
"aa_length": 602,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532967.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C1B",
"gene_hgnc_id": 17818,
"hgvs_c": "n.*358G>A",
"hgvs_p": null,
"transcript": "ENST00000406971.6",
"protein_id": "ENSP00000383905.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000406971.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C1B",
"gene_hgnc_id": 17818,
"hgvs_c": "n.*358G>A",
"hgvs_p": null,
"transcript": "ENST00000406971.6",
"protein_id": "ENSP00000383905.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000406971.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C1B-RDH14",
"gene_hgnc_id": 38831,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "NM_001199103.2",
"protein_id": "NP_001186032.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 650,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199103.2"
},
{
"aa_ref": "R",
"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": "NT5C1B",
"gene_hgnc_id": 17818,
"hgvs_c": "c.1268G>A",
"hgvs_p": "p.Arg423His",
"transcript": "NM_001199087.2",
"protein_id": "NP_001186016.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 627,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199087.2"
},
{
"aa_ref": "R",
"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": "NT5C1B",
"gene_hgnc_id": 17818,
"hgvs_c": "c.1223G>A",
"hgvs_p": "p.Arg408His",
"transcript": "NM_001199088.2",
"protein_id": "NP_001186017.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 612,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199088.2"
},
{
"aa_ref": "R",
"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": "NT5C1B",
"gene_hgnc_id": 17818,
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406His",
"transcript": "NM_001002006.3",
"protein_id": "NP_001002006.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 610,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002006.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C1B-RDH14",
"gene_hgnc_id": 38831,
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406His",
"transcript": "NM_001199104.2",
"protein_id": "NP_001186033.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 602,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199104.2"
},
{
"aa_ref": "R",
"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": "NT5C1B",
"gene_hgnc_id": 17818,
"hgvs_c": "c.1166G>A",
"hgvs_p": "p.Arg389His",
"transcript": "NM_001199086.2",
"protein_id": "NP_001186015.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 593,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199086.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C1B-RDH14",
"gene_hgnc_id": 38831,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348His",
"transcript": "ENST00000444297.2",
"protein_id": "ENSP00000412639.2",
"transcript_support_level": 2,
"aa_start": 348,
"aa_end": null,
"aa_length": 532,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444297.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NT5C1B",
"gene_hgnc_id": 17818,
"hgvs_c": "c.179G>A",
"hgvs_p": "p.Arg60His",
"transcript": "ENST00000418427.1",
"protein_id": "ENSP00000390811.1",
"transcript_support_level": 3,
"aa_start": 60,
"aa_end": null,
"aa_length": 264,
"cds_start": 179,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418427.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000304698",
"gene_hgnc_id": null,
"hgvs_c": "n.479+12854C>T",
"hgvs_p": null,
"transcript": "ENST00000805686.1",
"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": "ENST00000805686.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000304698",
"gene_hgnc_id": null,
"hgvs_c": "n.464+12854C>T",
"hgvs_p": null,
"transcript": "ENST00000805687.1",
"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": "ENST00000805687.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC105373456",
"gene_hgnc_id": null,
"hgvs_c": "n.722+12854C>T",
"hgvs_p": null,
"transcript": "XR_001739304.3",
"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_001739304.3"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105373456",
"gene_hgnc_id": null,
"hgvs_c": "n.237+12854C>T",
"hgvs_p": null,
"transcript": "XR_001739311.2",
"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_001739311.2"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC105373456",
"gene_hgnc_id": null,
"hgvs_c": "n.428-9379C>T",
"hgvs_p": null,
"transcript": "XR_001739313.2",
"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_001739313.2"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105373456",
"gene_hgnc_id": null,
"hgvs_c": "n.237+12854C>T",
"hgvs_p": null,
"transcript": "XR_007086227.1",
"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": "XR_007086227.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105373456",
"gene_hgnc_id": null,
"hgvs_c": "n.237+12854C>T",
"hgvs_p": null,
"transcript": "XR_007086228.1",
"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": "XR_007086228.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC105373456",
"gene_hgnc_id": null,
"hgvs_c": "n.1088+12854C>T",
"hgvs_p": null,
"transcript": "XR_007086229.1",
"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": "XR_007086229.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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],
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"dbsnp": "rs142671746",
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"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.46,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1043G>A",
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{
"score": 2,
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001199087.2",
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"effects": [
"missense_variant"
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"inheritance_mode": "AR",
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{
"score": 2,
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000805686.1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.479+12854C>T",
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},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_427002.4",
"gene_symbol": "LOC105373456",
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"effects": [
"intron_variant"
],
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}