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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: 2-148645072-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=148645072&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 148645072,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015630.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPC2",
"gene_hgnc_id": 24543,
"hgvs_c": "c.55A>C",
"hgvs_p": "p.Ile19Leu",
"transcript": "NM_015630.4",
"protein_id": "NP_056445.3",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 807,
"cds_start": 55,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": "ENST00000258484.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015630.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPC2",
"gene_hgnc_id": 24543,
"hgvs_c": "c.55A>C",
"hgvs_p": "p.Ile19Leu",
"transcript": "ENST00000258484.11",
"protein_id": "ENSP00000258484.6",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 807,
"cds_start": 55,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": "NM_015630.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258484.11"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPC2",
"gene_hgnc_id": 24543,
"hgvs_c": "c.55A>C",
"hgvs_p": "p.Ile19Leu",
"transcript": "ENST00000902236.1",
"protein_id": "ENSP00000572295.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 805,
"cds_start": 55,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 4946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902236.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPC2",
"gene_hgnc_id": 24543,
"hgvs_c": "c.55A>C",
"hgvs_p": "p.Ile19Leu",
"transcript": "ENST00000902237.1",
"protein_id": "ENSP00000572296.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 743,
"cds_start": 55,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 3693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902237.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPC2",
"gene_hgnc_id": 24543,
"hgvs_c": "c.55A>C",
"hgvs_p": "p.Ile19Leu",
"transcript": "ENST00000409654.5",
"protein_id": "ENSP00000387097.1",
"transcript_support_level": 3,
"aa_start": 19,
"aa_end": null,
"aa_length": 121,
"cds_start": 55,
"cds_end": null,
"cds_length": 366,
"cdna_start": 74,
"cdna_end": null,
"cdna_length": 1624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409654.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPC2",
"gene_hgnc_id": 24543,
"hgvs_c": "c.55A>C",
"hgvs_p": "p.Ile19Leu",
"transcript": "XM_011510941.3",
"protein_id": "XP_011509243.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 805,
"cds_start": 55,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 3877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510941.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPC2",
"gene_hgnc_id": 24543,
"hgvs_c": "c.-18A>C",
"hgvs_p": null,
"transcript": "ENST00000457184.6",
"protein_id": "ENSP00000415543.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 783,
"cds_start": null,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4713,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457184.6"
}
],
"gene_symbol": "EPC2",
"gene_hgnc_id": 24543,
"dbsnp": "rs1273140092",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5323948860168457,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.281,
"revel_prediction": "Benign",
"alphamissense_score": 0.6657,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.42,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015630.4",
"gene_symbol": "EPC2",
"hgnc_id": 24543,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.55A>C",
"hgvs_p": "p.Ile19Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}