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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: 19-44915189-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44915189&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 44915189,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000592535.6",
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "APOC1",
"gene_hgnc_id": 607,
"hgvs_c": "c.58+240C>T",
"hgvs_p": null,
"transcript": "NM_001645.5",
"protein_id": "NP_001636.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": -4,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 514,
"mane_select": "ENST00000592535.6",
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "APOC1",
"gene_hgnc_id": 607,
"hgvs_c": "c.58+240C>T",
"hgvs_p": null,
"transcript": "ENST00000592535.6",
"protein_id": "ENSP00000468276.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": -4,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 514,
"mane_select": "NM_001645.5",
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "APOC1",
"gene_hgnc_id": 607,
"hgvs_c": "c.58+240C>T",
"hgvs_p": null,
"transcript": "ENST00000588750.5",
"protein_id": "ENSP00000465356.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": -4,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 689,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "APOC1",
"gene_hgnc_id": 607,
"hgvs_c": "c.58+240C>T",
"hgvs_p": null,
"transcript": "ENST00000588802.5",
"protein_id": "ENSP00000468029.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": -4,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC1",
"gene_hgnc_id": 607,
"hgvs_c": "n.*30C>T",
"hgvs_p": null,
"transcript": "ENST00000592176.1",
"protein_id": "ENSP00000466227.1",
"transcript_support_level": 5,
"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": 514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOC1",
"gene_hgnc_id": 607,
"hgvs_c": "n.*30C>T",
"hgvs_p": null,
"transcript": "ENST00000592176.1",
"protein_id": "ENSP00000466227.1",
"transcript_support_level": 5,
"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": 514,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "APOC1",
"gene_hgnc_id": 607,
"hgvs_c": "c.58+240C>T",
"hgvs_p": null,
"transcript": "NM_001379687.1",
"protein_id": "NP_001366616.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 129,
"cds_start": -4,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 595,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "APOC1",
"gene_hgnc_id": 607,
"hgvs_c": "c.58+240C>T",
"hgvs_p": null,
"transcript": "ENST00000592885.5",
"protein_id": "ENSP00000467368.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 129,
"cds_start": -4,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 562,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "APOC1",
"gene_hgnc_id": 607,
"hgvs_c": "c.58+240C>T",
"hgvs_p": null,
"transcript": "ENST00000586638.5",
"protein_id": "ENSP00000466146.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": -4,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 425,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "APOC1",
"gene_hgnc_id": 607,
"hgvs_c": "c.58+240C>T",
"hgvs_p": null,
"transcript": "NM_001321065.2",
"protein_id": "NP_001307994.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": -4,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 553,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "APOC1",
"gene_hgnc_id": 607,
"hgvs_c": "c.58+240C>T",
"hgvs_p": null,
"transcript": "NM_001321066.2",
"protein_id": "NP_001307995.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": -4,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 615,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "APOC1",
"gene_hgnc_id": 607,
"hgvs_c": "c.58+240C>T",
"hgvs_p": null,
"transcript": "ENST00000589078.1",
"protein_id": "ENSP00000465710.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 52,
"cds_start": -4,
"cds_end": null,
"cds_length": 161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 213,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "APOC1",
"gene_hgnc_id": 607,
"hgvs_c": "c.58+240C>T",
"hgvs_p": null,
"transcript": "ENST00000589781.1",
"protein_id": "ENSP00000467504.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 29,
"cds_start": -4,
"cds_end": null,
"cds_length": 90,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 273,
"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": "APOC1",
"gene_hgnc_id": 607,
"hgvs_c": "n.58+240C>T",
"hgvs_p": null,
"transcript": "ENST00000590334.5",
"protein_id": "ENSP00000465190.1",
"transcript_support_level": 5,
"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": 508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000280087",
"gene_hgnc_id": null,
"hgvs_c": "n.*221C>T",
"hgvs_p": null,
"transcript": "ENST00000623895.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 5594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "APOC1",
"gene_hgnc_id": 607,
"dbsnp": "rs5114",
"frequency_reference_population": 0.004077919,
"hom_count_reference_population": 33,
"allele_count_reference_population": 2317,
"gnomad_exomes_af": 0.00161064,
"gnomad_genomes_af": 0.0108214,
"gnomad_exomes_ac": 670,
"gnomad_genomes_ac": 1647,
"gnomad_exomes_homalt": 10,
"gnomad_genomes_homalt": 23,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6200000047683716,
"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": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.051,
"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,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000592535.6",
"gene_symbol": "APOC1",
"hgnc_id": 607,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.58+240C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000623895.1",
"gene_symbol": "ENSG00000280087",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*221C>T",
"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
}