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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: 7-24285390-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=24285390&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 24285390,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000242152.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY",
"gene_hgnc_id": 7955,
"hgvs_c": "c.150G>A",
"hgvs_p": "p.Ser50Ser",
"transcript": "NM_000905.4",
"protein_id": "NP_000896.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 97,
"cds_start": 150,
"cds_end": null,
"cds_length": 294,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 555,
"mane_select": "ENST00000242152.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY",
"gene_hgnc_id": 7955,
"hgvs_c": "c.150G>A",
"hgvs_p": "p.Ser50Ser",
"transcript": "ENST00000242152.7",
"protein_id": "ENSP00000242152.2",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 97,
"cds_start": 150,
"cds_end": null,
"cds_length": 294,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 555,
"mane_select": "NM_000905.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY",
"gene_hgnc_id": 7955,
"hgvs_c": "c.150G>A",
"hgvs_p": "p.Ser50Ser",
"transcript": "ENST00000405982.1",
"protein_id": "ENSP00000385282.1",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 97,
"cds_start": 150,
"cds_end": null,
"cds_length": 294,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY",
"gene_hgnc_id": 7955,
"hgvs_c": "c.150G>A",
"hgvs_p": "p.Ser50Ser",
"transcript": "ENST00000407573.5",
"protein_id": "ENSP00000384364.1",
"transcript_support_level": 3,
"aa_start": 50,
"aa_end": null,
"aa_length": 97,
"cds_start": 150,
"cds_end": null,
"cds_length": 294,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228944",
"gene_hgnc_id": null,
"hgvs_c": "n.319+33967C>T",
"hgvs_p": null,
"transcript": "ENST00000718234.1",
"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": 692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228944",
"gene_hgnc_id": null,
"hgvs_c": "n.341+33967C>T",
"hgvs_p": null,
"transcript": "ENST00000745512.1",
"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": 1479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228944",
"gene_hgnc_id": null,
"hgvs_c": "n.309+33967C>T",
"hgvs_p": null,
"transcript": "ENST00000745513.1",
"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": 1037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000228944",
"gene_hgnc_id": null,
"hgvs_c": "n.329-15560C>T",
"hgvs_p": null,
"transcript": "ENST00000745514.1",
"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": 497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC107986777",
"gene_hgnc_id": null,
"hgvs_c": "n.209+33967C>T",
"hgvs_p": null,
"transcript": "XR_001745121.2",
"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": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "LOC107986777",
"gene_hgnc_id": null,
"hgvs_c": "n.81-88361C>T",
"hgvs_p": null,
"transcript": "XR_001745122.2",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1567,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC107986777",
"gene_hgnc_id": null,
"hgvs_c": "n.209+33967C>T",
"hgvs_p": null,
"transcript": "XR_001745123.2",
"protein_id": null,
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"aa_start": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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},
{
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"consequences": [
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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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"gene_symbol": "LOC107986777",
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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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"feature": null
}
],
"gene_symbol": "NPY",
"gene_hgnc_id": 7955,
"dbsnp": "rs5573",
"frequency_reference_population": 0.51764005,
"hom_count_reference_population": 218988,
"allele_count_reference_population": 835118,
"gnomad_exomes_af": 0.520815,
"gnomad_genomes_af": 0.487088,
"gnomad_exomes_ac": 761142,
"gnomad_genomes_ac": 73976,
"gnomad_exomes_homalt": 200333,
"gnomad_genomes_homalt": 18655,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5600000023841858,
"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": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.497,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000242152.7",
"gene_symbol": "NPY",
"hgnc_id": 7955,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.150G>A",
"hgvs_p": "p.Ser50Ser"
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000718234.1",
"gene_symbol": "ENSG00000228944",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.319+33967C>T",
"hgvs_p": null
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_001745121.2",
"gene_symbol": "LOC107986777",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.209+33967C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}