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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: 19-8964670-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=8964670&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 8964670,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000397910.8",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC16",
"gene_hgnc_id": 15582,
"hgvs_c": "c.12100A>T",
"hgvs_p": "p.Ile4034Phe",
"transcript": "ENST00000397910.8",
"protein_id": "ENSP00000381008.2",
"transcript_support_level": 5,
"aa_start": 4034,
"aa_end": null,
"aa_length": 14507,
"cds_start": 12100,
"cds_end": null,
"cds_length": 43524,
"cdna_start": 12304,
"cdna_end": null,
"cdna_length": 43816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 94,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC16",
"gene_hgnc_id": 15582,
"hgvs_c": "c.12646A>T",
"hgvs_p": "p.Ile4216Phe",
"transcript": "NM_001414686.1",
"protein_id": "NP_001401615.1",
"transcript_support_level": null,
"aa_start": 4216,
"aa_end": null,
"aa_length": 14723,
"cds_start": 12646,
"cds_end": null,
"cds_length": 44172,
"cdna_start": 12756,
"cdna_end": null,
"cdna_length": 44370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 93,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC16",
"gene_hgnc_id": 15582,
"hgvs_c": "c.12220A>T",
"hgvs_p": "p.Ile4074Phe",
"transcript": "NM_001401501.2",
"protein_id": "NP_001388430.1",
"transcript_support_level": null,
"aa_start": 4074,
"aa_end": null,
"aa_length": 14581,
"cds_start": 12220,
"cds_end": null,
"cds_length": 43746,
"cdna_start": 12273,
"cdna_end": null,
"cdna_length": 43887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC16",
"gene_hgnc_id": 15582,
"hgvs_c": "c.12220A>T",
"hgvs_p": "p.Ile4074Phe",
"transcript": "ENST00000711672.1",
"protein_id": "ENSP00000518832.1",
"transcript_support_level": null,
"aa_start": 4074,
"aa_end": null,
"aa_length": 14569,
"cds_start": 12220,
"cds_end": null,
"cds_length": 43710,
"cdna_start": 12254,
"cdna_end": null,
"cdna_length": 43832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC16",
"gene_hgnc_id": 15582,
"hgvs_c": "c.12220A>T",
"hgvs_p": "p.Ile4074Phe",
"transcript": "ENST00000710609.1",
"protein_id": "ENSP00000518375.1",
"transcript_support_level": null,
"aa_start": 4074,
"aa_end": null,
"aa_length": 14547,
"cds_start": 12220,
"cds_end": null,
"cds_length": 43644,
"cdna_start": 12254,
"cdna_end": null,
"cdna_length": 43766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC16",
"gene_hgnc_id": 15582,
"hgvs_c": "c.12100A>T",
"hgvs_p": "p.Ile4034Phe",
"transcript": "NM_001414687.1",
"protein_id": "NP_001401616.1",
"transcript_support_level": null,
"aa_start": 4034,
"aa_end": null,
"aa_length": 14541,
"cds_start": 12100,
"cds_end": null,
"cds_length": 43626,
"cdna_start": 12313,
"cdna_end": null,
"cdna_length": 43927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC16",
"gene_hgnc_id": 15582,
"hgvs_c": "c.12100A>T",
"hgvs_p": "p.Ile4034Phe",
"transcript": "NM_024690.2",
"protein_id": "NP_078966.2",
"transcript_support_level": null,
"aa_start": 4034,
"aa_end": null,
"aa_length": 14507,
"cds_start": 12100,
"cds_end": null,
"cds_length": 43524,
"cdna_start": 12304,
"cdna_end": null,
"cdna_length": 43816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC16",
"gene_hgnc_id": 15582,
"hgvs_c": "c.2926A>T",
"hgvs_p": "p.Ile976Phe",
"transcript": "ENST00000710610.1",
"protein_id": "ENSP00000518376.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 11449,
"cds_start": 2926,
"cds_end": null,
"cds_length": 34350,
"cdna_start": 2960,
"cdna_end": null,
"cdna_length": 34472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MUC16",
"gene_hgnc_id": 15582,
"dbsnp": "rs2591592",
"frequency_reference_population": 0.55959505,
"hom_count_reference_population": 257726,
"allele_count_reference_population": 902882,
"gnomad_exomes_af": 0.564608,
"gnomad_genomes_af": 0.511384,
"gnomad_exomes_ac": 825171,
"gnomad_genomes_ac": 77711,
"gnomad_exomes_homalt": 237279,
"gnomad_genomes_homalt": 20447,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000030184351999196224,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": 0.103,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.774,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000397910.8",
"gene_symbol": "MUC16",
"hgnc_id": 15582,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.12100A>T",
"hgvs_p": "p.Ile4034Phe"
}
],
"clinvar_disease": "MUC16-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "MUC16-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}