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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: 22-24441283-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=24441283&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 24441283,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000675.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADORA2A",
"gene_hgnc_id": 263,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "NM_000675.6",
"protein_id": "NP_000666.2",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 412,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337539.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000675.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADORA2A",
"gene_hgnc_id": 263,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "ENST00000337539.12",
"protein_id": "ENSP00000336630.6",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 412,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000675.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337539.12"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADORA2A",
"gene_hgnc_id": 263,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "ENST00000618076.3",
"protein_id": "ENSP00000481552.1",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 412,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618076.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1L-ADORA2A",
"gene_hgnc_id": 49185,
"hgvs_c": "n.*2168G>A",
"hgvs_p": null,
"transcript": "ENST00000358654.2",
"protein_id": "ENSP00000351480.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000358654.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPECC1L-ADORA2A",
"gene_hgnc_id": 49185,
"hgvs_c": "n.*2168G>A",
"hgvs_p": null,
"transcript": "ENST00000358654.2",
"protein_id": "ENSP00000351480.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000358654.2"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ADORA2A-AS1",
"gene_hgnc_id": 37122,
"hgvs_c": "n.1270+709C>T",
"hgvs_p": null,
"transcript": "ENST00000427813.6",
"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": "ENST00000427813.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADORA2A",
"gene_hgnc_id": 263,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "NM_001278497.2",
"protein_id": "NP_001265426.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 412,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278497.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADORA2A",
"gene_hgnc_id": 263,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "NM_001278498.2",
"protein_id": "NP_001265427.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 412,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278498.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADORA2A",
"gene_hgnc_id": 263,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "NM_001278499.2",
"protein_id": "NP_001265428.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 412,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278499.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADORA2A",
"gene_hgnc_id": 263,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "NM_001278500.2",
"protein_id": "NP_001265429.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 412,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278500.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADORA2A",
"gene_hgnc_id": 263,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "ENST00000610595.4",
"protein_id": "ENSP00000480012.1",
"transcript_support_level": 2,
"aa_start": 345,
"aa_end": null,
"aa_length": 412,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610595.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADORA2A",
"gene_hgnc_id": 263,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "ENST00000611543.4",
"protein_id": "ENSP00000483102.1",
"transcript_support_level": 5,
"aa_start": 345,
"aa_end": null,
"aa_length": 412,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611543.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADORA2A",
"gene_hgnc_id": 263,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "ENST00000880349.1",
"protein_id": "ENSP00000550408.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 412,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880349.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADORA2A",
"gene_hgnc_id": 263,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "ENST00000880350.1",
"protein_id": "ENSP00000550409.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 412,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880350.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADORA2A",
"gene_hgnc_id": 263,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "ENST00000880351.1",
"protein_id": "ENSP00000550410.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 412,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880351.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADORA2A",
"gene_hgnc_id": 263,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "ENST00000880352.1",
"protein_id": "ENSP00000550411.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 412,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880352.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADORA2A",
"gene_hgnc_id": 263,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "ENST00000880353.1",
"protein_id": "ENSP00000550412.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 412,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880353.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADORA2A",
"gene_hgnc_id": 263,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "ENST00000880354.1",
"protein_id": "ENSP00000550413.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 412,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880354.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADORA2A",
"gene_hgnc_id": 263,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "ENST00000880355.1",
"protein_id": "ENSP00000550414.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 412,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880355.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADORA2A",
"gene_hgnc_id": 263,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "ENST00000880356.1",
"protein_id": "ENSP00000550415.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 412,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880356.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADORA2A",
"gene_hgnc_id": 263,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "ENST00000880357.1",
"protein_id": "ENSP00000550416.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 412,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880357.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADORA2A",
"gene_hgnc_id": 263,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Val345Met",
"transcript": "ENST00000880358.1",
"protein_id": "ENSP00000550417.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 412,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"gnomad_mito_homoplasmic": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.115,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.037,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000675.6",
"gene_symbol": "ADORA2A",
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"effects": [
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],
"inheritance_mode": "AD",
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{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000358654.2",
"gene_symbol": "SPECC1L-ADORA2A",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*2168G>A",
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},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000427813.6",
"gene_symbol": "ADORA2A-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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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
}