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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: 14-94619305-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=94619305&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 94619305,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001085.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.754C>G",
"hgvs_p": "p.Pro252Ala",
"transcript": "NM_001085.5",
"protein_id": "NP_001076.2",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 423,
"cds_start": 754,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393078.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001085.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.754C>G",
"hgvs_p": "p.Pro252Ala",
"transcript": "ENST00000393078.5",
"protein_id": "ENSP00000376793.3",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 423,
"cds_start": 754,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001085.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393078.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.754C>G",
"hgvs_p": "p.Pro252Ala",
"transcript": "ENST00000393080.8",
"protein_id": "ENSP00000376795.4",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 423,
"cds_start": 754,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393080.8"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.100C>G",
"hgvs_p": "p.Pro34Ala",
"transcript": "ENST00000482740.2",
"protein_id": "ENSP00000451119.1",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 205,
"cds_start": 100,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482740.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273259",
"gene_hgnc_id": null,
"hgvs_c": "n.*1580C>G",
"hgvs_p": null,
"transcript": "ENST00000553947.1",
"protein_id": "ENSP00000452367.2",
"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": "ENST00000553947.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273259",
"gene_hgnc_id": null,
"hgvs_c": "n.*1580C>G",
"hgvs_p": null,
"transcript": "ENST00000553947.1",
"protein_id": "ENSP00000452367.2",
"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": "ENST00000553947.1"
},
{
"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": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "n.644-3036C>G",
"hgvs_p": null,
"transcript": "ENST00000556968.2",
"protein_id": "ENSP00000452476.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000556968.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.754C>G",
"hgvs_p": "p.Pro252Ala",
"transcript": "NM_001384672.1",
"protein_id": "NP_001371601.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 423,
"cds_start": 754,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384672.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.754C>G",
"hgvs_p": "p.Pro252Ala",
"transcript": "NM_001384673.1",
"protein_id": "NP_001371602.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 423,
"cds_start": 754,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384673.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.754C>G",
"hgvs_p": "p.Pro252Ala",
"transcript": "NM_001384674.1",
"protein_id": "NP_001371603.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 423,
"cds_start": 754,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384674.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.754C>G",
"hgvs_p": "p.Pro252Ala",
"transcript": "ENST00000467132.5",
"protein_id": "ENSP00000450540.1",
"transcript_support_level": 2,
"aa_start": 252,
"aa_end": null,
"aa_length": 423,
"cds_start": 754,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467132.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.754C>G",
"hgvs_p": "p.Pro252Ala",
"transcript": "ENST00000890363.1",
"protein_id": "ENSP00000560422.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 423,
"cds_start": 754,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890363.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.754C>G",
"hgvs_p": "p.Pro252Ala",
"transcript": "ENST00000890364.1",
"protein_id": "ENSP00000560423.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 423,
"cds_start": 754,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890364.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.754C>G",
"hgvs_p": "p.Pro252Ala",
"transcript": "ENST00000890365.1",
"protein_id": "ENSP00000560424.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 423,
"cds_start": 754,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890365.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.754C>G",
"hgvs_p": "p.Pro252Ala",
"transcript": "ENST00000890367.1",
"protein_id": "ENSP00000560426.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 423,
"cds_start": 754,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890367.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.754C>G",
"hgvs_p": "p.Pro252Ala",
"transcript": "ENST00000890368.1",
"protein_id": "ENSP00000560427.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 423,
"cds_start": 754,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890368.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.754C>G",
"hgvs_p": "p.Pro252Ala",
"transcript": "ENST00000890369.1",
"protein_id": "ENSP00000560428.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 423,
"cds_start": 754,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890369.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.754C>G",
"hgvs_p": "p.Pro252Ala",
"transcript": "ENST00000890372.1",
"protein_id": "ENSP00000560431.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 423,
"cds_start": 754,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890372.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.754C>G",
"hgvs_p": "p.Pro252Ala",
"transcript": "ENST00000890373.1",
"protein_id": "ENSP00000560432.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 423,
"cds_start": 754,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890373.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.754C>G",
"hgvs_p": "p.Pro252Ala",
"transcript": "ENST00000890374.1",
"protein_id": "ENSP00000560433.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 423,
"cds_start": 754,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890374.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.754C>G",
"hgvs_p": "p.Pro252Ala",
"transcript": "ENST00000890375.1",
"protein_id": "ENSP00000560434.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 423,
"cds_start": 754,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890375.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINA3",
"gene_hgnc_id": 16,
"hgvs_c": "c.754C>G",
"hgvs_p": "p.Pro252Ala",
"transcript": "ENST00000890376.1",
"protein_id": "ENSP00000560435.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 423,
"cds_start": 754,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1796,
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"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.092,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Pathogenic",
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"acmg_score": -11,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"benign_score": 12,
"pathogenic_score": 1,
"criteria": [
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"BP6_Very_Strong",
"BS2"
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"verdict": "Benign",
"transcript": "NM_001085.5",
"gene_symbol": "SERPINA3",
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"effects": [
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"inheritance_mode": "AR",
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"hgvs_p": "p.Pro252Ala"
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{
"score": -11,
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"PP3",
"BP6_Very_Strong",
"BS2"
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"verdict": "Benign",
"transcript": "ENST00000553947.1",
"gene_symbol": "ENSG00000273259",
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"effects": [
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"inheritance_mode": "",
"hgvs_c": "n.*1580C>G",
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},
{
"score": -10,
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"criteria": [
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"BP6_Very_Strong",
"BS2"
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"verdict": "Benign",
"transcript": "ENST00000812399.1",
"gene_symbol": "ENSG00000305687",
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"effects": [
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"intron_variant"
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"inheritance_mode": "",
"hgvs_c": "n.440+1G>C",
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}
],
"clinvar_disease": "ANTICHYMOTRYPSIN BONN 1,Antichymotrypsin deficiency-alpha-1,SERPINA3-related disorder,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "ANTICHYMOTRYPSIN BONN 1|not provided|SERPINA3-related disorder|Antichymotrypsin deficiency-alpha-1",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}