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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: 1-112956232-C-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=112956232&ref=C&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 112956232,
"ref": "C",
"alt": "CG",
"effect": "intron_variant",
"transcript": "ENST00000413231.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "c.-45+606_-45+607insC",
"hgvs_p": null,
"transcript": "ENST00000429288.2",
"protein_id": "ENSP00000397106.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": -4,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "c.-45+1305_-45+1306insC",
"hgvs_p": null,
"transcript": "ENST00000679803.1",
"protein_id": "ENSP00000505879.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": -4,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3647,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC16A1-AS1",
"gene_hgnc_id": 49445,
"hgvs_c": "n.563-4245_563-4244insG",
"hgvs_p": null,
"transcript": "ENST00000413231.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 1345,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC16A1-AS1",
"gene_hgnc_id": 49445,
"hgvs_c": "n.531-4245_531-4244insG",
"hgvs_p": null,
"transcript": "ENST00000715665.1",
"protein_id": null,
"transcript_support_level": null,
"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": 955,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC16A1-AS1",
"gene_hgnc_id": 49445,
"hgvs_c": "n.193-4245_193-4244insG",
"hgvs_p": null,
"transcript": "ENST00000764794.1",
"protein_id": null,
"transcript_support_level": null,
"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": 869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "c.-243_-242insC",
"hgvs_p": null,
"transcript": "NM_003051.4",
"protein_id": "NP_003042.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": -4,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3753,
"mane_select": "ENST00000369626.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "c.-243_-242insC",
"hgvs_p": null,
"transcript": "ENST00000369626.8",
"protein_id": "ENSP00000358640.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": -4,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3753,
"mane_select": "NM_003051.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A1-AS1",
"gene_hgnc_id": 49445,
"hgvs_c": "n.-172_-171insG",
"hgvs_p": null,
"transcript": "ENST00000416193.7",
"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": 758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A1-AS1",
"gene_hgnc_id": 49445,
"hgvs_c": "n.-183_-182insG",
"hgvs_p": null,
"transcript": "ENST00000428411.6",
"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": 8803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "n.-52_-51insC",
"hgvs_p": null,
"transcript": "ENST00000478835.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "SLC16A1",
"gene_hgnc_id": 10922,
"hgvs_c": "c.-1002_-1001insC",
"hgvs_p": null,
"transcript": "NM_001166496.2",
"protein_id": "NP_001159968.1",
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "SLC16A1",
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"hgvs_c": "c.-346_-345insC",
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"transcript": "ENST00000458229.6",
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},
{
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"strand": true,
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],
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"intron_rank": null,
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"gene_symbol": "SLC16A1",
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"hgvs_c": "c.-1002_-1001insC",
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"transcript": "ENST00000538576.5",
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},
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],
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"gene_symbol": "SLC16A1-AS1",
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},
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],
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},
{
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],
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"exon_count": 6,
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],
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},
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],
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"gene_symbol": "SLC16A1",
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"hgvs_c": "n.-239_-238insC",
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"transcript": "ENST00000679846.1",
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": null,
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"hgvs_c": "n.-226_-225insG",
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],
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],
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],
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"intron_rank": null,
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "SLC16A1-AS1",
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"hgvs_c": "n.-161_-160insG",
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},
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}
],
"gene_symbol": "SLC16A1-AS1",
"gene_hgnc_id": 49445,
"dbsnp": "rs58047463",
"frequency_reference_population": 0.009953689,
"hom_count_reference_population": 26,
"allele_count_reference_population": 1526,
"gnomad_exomes_af": 0.00271248,
"gnomad_genomes_af": 0.0100063,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1523,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 26,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.424,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000413231.6",
"gene_symbol": "SLC16A1-AS1",
"hgnc_id": 49445,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.563-4245_563-4244insG",
"hgvs_p": null
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000429288.2",
"gene_symbol": "SLC16A1",
"hgnc_id": 10922,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR,Unknown,SD",
"hgvs_c": "c.-45+606_-45+607insC",
"hgvs_p": null
}
],
"clinvar_disease": " Dominant,Hyperinsulinism,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "Hyperinsulinism, Dominant|not specified",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}