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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: 19-8857873-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=8857873&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 8857873,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001414686.1",
"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": 93,
"intron_rank": 89,
"intron_rank_end": null,
"gene_symbol": "MUC16",
"gene_hgnc_id": 15582,
"hgvs_c": "c.43358+331T>A",
"hgvs_p": null,
"transcript": "NM_001401501.2",
"protein_id": "NP_001388430.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 14581,
"cds_start": null,
"cds_end": null,
"cds_length": 43746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 43887,
"mane_select": "ENST00000711671.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001401501.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": 80,
"intron_rank_end": null,
"gene_symbol": "MUC16",
"gene_hgnc_id": 15582,
"hgvs_c": "c.43136+331T>A",
"hgvs_p": null,
"transcript": "ENST00000397910.8",
"protein_id": "ENSP00000381008.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 14507,
"cds_start": null,
"cds_end": null,
"cds_length": 43524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 43816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397910.8"
},
{
"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": 94,
"intron_rank": 90,
"intron_rank_end": null,
"gene_symbol": "MUC16",
"gene_hgnc_id": 15582,
"hgvs_c": "c.43784+331T>A",
"hgvs_p": null,
"transcript": "NM_001414686.1",
"protein_id": "NP_001401615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 14723,
"cds_start": null,
"cds_end": null,
"cds_length": 44172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 44370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414686.1"
},
{
"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": 88,
"intron_rank": 84,
"intron_rank_end": null,
"gene_symbol": "MUC16",
"gene_hgnc_id": 15582,
"hgvs_c": "c.43322+331T>A",
"hgvs_p": null,
"transcript": "ENST00000711672.1",
"protein_id": "ENSP00000518832.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 14569,
"cds_start": null,
"cds_end": null,
"cds_length": 43710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 43832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000711672.1"
},
{
"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": 87,
"intron_rank": 83,
"intron_rank_end": null,
"gene_symbol": "MUC16",
"gene_hgnc_id": 15582,
"hgvs_c": "c.43256+331T>A",
"hgvs_p": null,
"transcript": "ENST00000710609.1",
"protein_id": "ENSP00000518375.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 14547,
"cds_start": null,
"cds_end": null,
"cds_length": 43644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 43766,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710609.1"
},
{
"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": 90,
"intron_rank": 86,
"intron_rank_end": null,
"gene_symbol": "MUC16",
"gene_hgnc_id": 15582,
"hgvs_c": "c.43238+331T>A",
"hgvs_p": null,
"transcript": "NM_001414687.1",
"protein_id": "NP_001401616.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 14541,
"cds_start": null,
"cds_end": null,
"cds_length": 43626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 43927,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414687.1"
},
{
"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": 84,
"intron_rank": 80,
"intron_rank_end": null,
"gene_symbol": "MUC16",
"gene_hgnc_id": 15582,
"hgvs_c": "c.43136+331T>A",
"hgvs_p": null,
"transcript": "NM_024690.2",
"protein_id": "NP_078966.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 14507,
"cds_start": null,
"cds_end": null,
"cds_length": 43524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 43816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024690.2"
},
{
"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": 86,
"intron_rank": 82,
"intron_rank_end": null,
"gene_symbol": "MUC16",
"gene_hgnc_id": 15582,
"hgvs_c": "c.33962+331T>A",
"hgvs_p": null,
"transcript": "ENST00000710610.1",
"protein_id": "ENSP00000518376.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 11449,
"cds_start": null,
"cds_end": null,
"cds_length": 34350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 34472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710610.1"
},
{
"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": 40,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "MUC16",
"gene_hgnc_id": 15582,
"hgvs_c": "c.3602+331T>A",
"hgvs_p": null,
"transcript": "ENST00000599436.1",
"protein_id": "ENSP00000472781.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1329,
"cds_start": null,
"cds_end": null,
"cds_length": 3990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4079,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599436.1"
},
{
"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": 28,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "MUC16",
"gene_hgnc_id": 15582,
"hgvs_c": "n.*402+331T>A",
"hgvs_p": null,
"transcript": "ENST00000596768.5",
"protein_id": "ENSP00000472883.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2888,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000596768.5"
},
{
"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": 40,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "MUC16",
"gene_hgnc_id": 15582,
"hgvs_c": "n.3601+331T>A",
"hgvs_p": null,
"transcript": "ENST00000601404.5",
"protein_id": "ENSP00000470885.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4078,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000601404.5"
}
],
"gene_symbol": "MUC16",
"gene_hgnc_id": 15582,
"dbsnp": "rs1862456",
"frequency_reference_population": 0.000019785002,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.000019785,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.018,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001414686.1",
"gene_symbol": "MUC16",
"hgnc_id": 15582,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.43784+331T>A",
"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
}