← Back to variant description
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: 18-63318219-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=63318219&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 63318219,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000633.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2",
"gene_hgnc_id": 990,
"hgvs_c": "c.448T>C",
"hgvs_p": "p.Phe150Leu",
"transcript": "NM_000633.3",
"protein_id": "NP_000624.2",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 239,
"cds_start": 448,
"cds_end": null,
"cds_length": 720,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 6881,
"mane_select": "ENST00000333681.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2",
"gene_hgnc_id": 990,
"hgvs_c": "c.448T>C",
"hgvs_p": "p.Phe150Leu",
"transcript": "ENST00000333681.5",
"protein_id": "ENSP00000329623.3",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 239,
"cds_start": 448,
"cds_end": null,
"cds_length": 720,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 6881,
"mane_select": "NM_000633.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2",
"gene_hgnc_id": 990,
"hgvs_c": "c.448T>C",
"hgvs_p": "p.Phe150Leu",
"transcript": "ENST00000398117.1",
"protein_id": "ENSP00000381185.1",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 239,
"cds_start": 448,
"cds_end": null,
"cds_length": 720,
"cdna_start": 1910,
"cdna_end": null,
"cdna_length": 7461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2",
"gene_hgnc_id": 990,
"hgvs_c": "c.448T>C",
"hgvs_p": "p.Phe150Leu",
"transcript": "NM_000657.3",
"protein_id": "NP_000648.2",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 205,
"cds_start": 448,
"cds_end": null,
"cds_length": 618,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2",
"gene_hgnc_id": 990,
"hgvs_c": "c.448T>C",
"hgvs_p": "p.Phe150Leu",
"transcript": "ENST00000589955.2",
"protein_id": "ENSP00000466417.1",
"transcript_support_level": 6,
"aa_start": 150,
"aa_end": null,
"aa_length": 205,
"cds_start": 448,
"cds_end": null,
"cds_length": 618,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 5011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2",
"gene_hgnc_id": 990,
"hgvs_c": "c.448T>C",
"hgvs_p": "p.Phe150Leu",
"transcript": "NM_001438935.1",
"protein_id": "NP_001425864.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 198,
"cds_start": 448,
"cds_end": null,
"cds_length": 597,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2",
"gene_hgnc_id": 990,
"hgvs_c": "c.448T>C",
"hgvs_p": "p.Phe150Leu",
"transcript": "XM_047437733.1",
"protein_id": "XP_047293689.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 239,
"cds_start": 448,
"cds_end": null,
"cds_length": 720,
"cdna_start": 1872,
"cdna_end": null,
"cdna_length": 7423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2",
"gene_hgnc_id": 990,
"hgvs_c": "c.448T>C",
"hgvs_p": "p.Phe150Leu",
"transcript": "XM_011526135.4",
"protein_id": "XP_011524437.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 224,
"cds_start": 448,
"cds_end": null,
"cds_length": 675,
"cdna_start": 1872,
"cdna_end": null,
"cdna_length": 2984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2",
"gene_hgnc_id": 990,
"hgvs_c": "c.448T>C",
"hgvs_p": "p.Phe150Leu",
"transcript": "XM_047437734.1",
"protein_id": "XP_047293690.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 198,
"cds_start": 448,
"cds_end": null,
"cds_length": 597,
"cdna_start": 1872,
"cdna_end": null,
"cdna_length": 2244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2",
"gene_hgnc_id": 990,
"hgvs_c": "n.448T>C",
"hgvs_p": null,
"transcript": "ENST00000677227.1",
"protein_id": "ENSP00000504566.1",
"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": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2",
"gene_hgnc_id": 990,
"hgvs_c": "n.448T>C",
"hgvs_p": null,
"transcript": "ENST00000678134.1",
"protein_id": "ENSP00000503628.1",
"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": 6203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2",
"gene_hgnc_id": 990,
"hgvs_c": "n.448T>C",
"hgvs_p": null,
"transcript": "ENST00000678349.1",
"protein_id": "ENSP00000504190.1",
"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": 6551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BCL2",
"gene_hgnc_id": 990,
"dbsnp": "rs780880487",
"frequency_reference_population": 6.8405257e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84053e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8237292170524597,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.423,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9914,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.197,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000633.3",
"gene_symbol": "BCL2",
"hgnc_id": 990,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.448T>C",
"hgvs_p": "p.Phe150Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}