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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: 16-15959116-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15959116&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 15959116,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000399410.8",
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.48+9317C>G",
"hgvs_p": null,
"transcript": "NM_004996.4",
"protein_id": "NP_004987.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1531,
"cds_start": -4,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6504,
"mane_select": "ENST00000399410.8",
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.48+9317C>G",
"hgvs_p": null,
"transcript": "ENST00000399410.8",
"protein_id": "ENSP00000382342.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1531,
"cds_start": -4,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6504,
"mane_select": "NM_004996.4",
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.48+9317C>G",
"hgvs_p": null,
"transcript": "ENST00000572882.3",
"protein_id": "ENSP00000461615.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1472,
"cds_start": -4,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "n.123+9856C>G",
"hgvs_p": null,
"transcript": "ENST00000574224.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2616,
"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": 32,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.48+9317C>G",
"hgvs_p": null,
"transcript": "ENST00000399408.7",
"protein_id": "ENSP00000382340.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1541,
"cds_start": -4,
"cds_end": null,
"cds_length": 4626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6594,
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.48+9317C>G",
"hgvs_p": null,
"transcript": "NM_019901.2",
"protein_id": "NP_063956.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1489,
"cds_start": -4,
"cds_end": null,
"cds_length": 4470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.48+9317C>G",
"hgvs_p": null,
"transcript": "NM_019902.2",
"protein_id": "NP_063957.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1482,
"cds_start": -4,
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"cds_length": 4449,
"cdna_start": null,
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"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.48+9317C>G",
"hgvs_p": null,
"transcript": "NM_019898.3",
"protein_id": "NP_063953.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1475,
"cds_start": -4,
"cds_end": null,
"cds_length": 4428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6336,
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.48+9317C>G",
"hgvs_p": null,
"transcript": "NM_019862.3",
"protein_id": "NP_063915.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1472,
"cds_start": -4,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
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"cdna_length": 6327,
"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,
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"intron_rank": 1,
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"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.48+9317C>G",
"hgvs_p": null,
"transcript": "NM_001438755.1",
"protein_id": "NP_001425684.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 1,
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"gene_symbol": "ABCC1",
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"hgvs_c": "c.48+9317C>G",
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"transcript": "NM_001438715.1",
"protein_id": "NP_001425644.1",
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},
{
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],
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},
{
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],
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},
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],
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],
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},
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],
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},
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],
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"hgvs_c": "n.48+9317C>G",
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"transcript": "ENST00000678422.1",
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],
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},
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],
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"intron_rank": 1,
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"gene_symbol": "ABCC1",
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}
],
"gene_symbol": "ABCC1",
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"dbsnp": "rs215101",
"frequency_reference_population": 0.18633324,
"hom_count_reference_population": 2971,
"allele_count_reference_population": 28307,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.186333,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 28307,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 2971,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"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": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.131,
"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": "ENST00000399410.8",
"gene_symbol": "ABCC1",
"hgnc_id": 51,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.48+9317C>G",
"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
}