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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: 11-75565133-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=75565133&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 75565133,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000358171.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.-34-1183A>C",
"hgvs_p": null,
"transcript": "NM_001235.5",
"protein_id": "NP_001226.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": "ENST00000358171.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.-34-1183A>C",
"hgvs_p": null,
"transcript": "ENST00000358171.8",
"protein_id": "ENSP00000350894.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": "NM_001235.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.-34-1183A>C",
"hgvs_p": null,
"transcript": "ENST00000530284.5",
"protein_id": "ENSP00000436305.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.-34-1183A>C",
"hgvs_p": null,
"transcript": "NM_001207014.3",
"protein_id": "NP_001193943.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.-34-1183A>C",
"hgvs_p": null,
"transcript": "NM_001440311.1",
"protein_id": "NP_001427240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.-34-1183A>C",
"hgvs_p": null,
"transcript": "NM_001440312.1",
"protein_id": "NP_001427241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.-34-1183A>C",
"hgvs_p": null,
"transcript": "NM_001440313.1",
"protein_id": "NP_001427242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.-34-1183A>C",
"hgvs_p": null,
"transcript": "NM_001440314.1",
"protein_id": "NP_001427243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.-34-1183A>C",
"hgvs_p": null,
"transcript": "NM_001440315.1",
"protein_id": "NP_001427244.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.-34-1183A>C",
"hgvs_p": null,
"transcript": "NM_001440316.1",
"protein_id": "NP_001427245.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
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"cds_length": 1257,
"cdna_start": null,
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"cdna_length": 2579,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.-34-1183A>C",
"hgvs_p": null,
"transcript": "ENST00000524558.5",
"protein_id": "ENSP00000434412.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "SERPINH1",
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"hgvs_c": "c.-34-1183A>C",
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"transcript": "ENST00000533603.5",
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},
{
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],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "SERPINH1",
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"hgvs_c": "c.-34-1183A>C",
"hgvs_p": null,
"transcript": "NM_001440317.1",
"protein_id": "NP_001427246.1",
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},
{
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"strand": true,
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],
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "SERPINH1",
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"hgvs_c": "c.-34-1183A>C",
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"transcript": "ENST00000533449.6",
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},
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],
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"gene_symbol": "SERPINH1",
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"transcript": "ENST00000532356.5",
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},
{
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],
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"gene_symbol": "SERPINH1",
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"hgvs_c": "c.-34-1183A>C",
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},
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],
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"gene_symbol": "SERPINH1",
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"hgvs_c": "c.-34-1183A>C",
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"transcript": "ENST00000525611.5",
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},
{
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],
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"exon_count": 3,
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"gene_symbol": "SERPINH1",
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"hgvs_c": "c.-34-1183A>C",
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"transcript": "ENST00000528760.1",
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},
{
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],
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"gene_symbol": "SERPINH1",
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"hgvs_c": "c.-34-1183A>C",
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},
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],
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},
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],
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.-34-1183A>C",
"hgvs_p": null,
"transcript": "ENST00000526242.1",
"protein_id": "ENSP00000431384.1",
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "n.-34-1183A>C",
"hgvs_p": null,
"transcript": "ENST00000649490.1",
"protein_id": "ENSP00000497544.1",
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}
],
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"dbsnp": "rs606452",
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"gnomad_exomes_af": null,
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"gnomad_genomes_ac": 118025,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 46576,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.096,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000358171.8",
"gene_symbol": "SERPINH1",
"hgnc_id": 1546,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.-34-1183A>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}