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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: 3-127608466-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=127608466&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 127608466,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000265056.12",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM2",
"gene_hgnc_id": 6944,
"hgvs_c": "c.1186G>C",
"hgvs_p": "p.Ala396Pro",
"transcript": "NM_004526.4",
"protein_id": "NP_004517.2",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 904,
"cds_start": 1186,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 1242,
"cdna_end": null,
"cdna_length": 3434,
"mane_select": "ENST00000265056.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM2",
"gene_hgnc_id": 6944,
"hgvs_c": "c.1186G>C",
"hgvs_p": "p.Ala396Pro",
"transcript": "ENST00000265056.12",
"protein_id": "ENSP00000265056.7",
"transcript_support_level": 1,
"aa_start": 396,
"aa_end": null,
"aa_length": 904,
"cds_start": 1186,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 1242,
"cdna_end": null,
"cdna_length": 3434,
"mane_select": "NM_004526.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM2",
"gene_hgnc_id": 6944,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Ala258Pro",
"transcript": "ENST00000491422.1",
"protein_id": "ENSP00000420528.1",
"transcript_support_level": 5,
"aa_start": 258,
"aa_end": null,
"aa_length": 835,
"cds_start": 772,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 2844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM2",
"gene_hgnc_id": 6944,
"hgvs_c": "c.1159G>C",
"hgvs_p": "p.Ala387Pro",
"transcript": "XM_024453531.2",
"protein_id": "XP_024309299.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 895,
"cds_start": 1159,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 3396,
"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": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM2",
"gene_hgnc_id": 6944,
"hgvs_c": "n.*764G>C",
"hgvs_p": null,
"transcript": "ENST00000474964.6",
"protein_id": "ENSP00000420007.1",
"transcript_support_level": 2,
"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": 3034,
"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": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM2",
"gene_hgnc_id": 6944,
"hgvs_c": "n.*764G>C",
"hgvs_p": null,
"transcript": "ENST00000477668.5",
"protein_id": "ENSP00000417800.1",
"transcript_support_level": 2,
"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": 2510,
"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": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM2",
"gene_hgnc_id": 6944,
"hgvs_c": "n.1261G>C",
"hgvs_p": null,
"transcript": "NR_073375.2",
"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": 3453,
"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": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM2",
"gene_hgnc_id": 6944,
"hgvs_c": "n.*764G>C",
"hgvs_p": null,
"transcript": "ENST00000474964.6",
"protein_id": "ENSP00000420007.1",
"transcript_support_level": 2,
"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": 3034,
"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": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM2",
"gene_hgnc_id": 6944,
"hgvs_c": "n.*764G>C",
"hgvs_p": null,
"transcript": "ENST00000477668.5",
"protein_id": "ENSP00000417800.1",
"transcript_support_level": 2,
"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": 2510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MCM2",
"gene_hgnc_id": 6944,
"dbsnp": "rs3087450",
"frequency_reference_population": 6.840563e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84056e-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": 0.8351261615753174,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.392,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9928,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.17,
"phylop100way_prediction": "Uncertain_significance",
"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": 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": "ENST00000265056.12",
"gene_symbol": "MCM2",
"hgnc_id": 6944,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1186G>C",
"hgvs_p": "p.Ala396Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}