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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: 17-12992840-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=12992840&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 12992840,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000338034.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2459C>T",
"hgvs_p": "p.Ala820Val",
"transcript": "NM_018127.7",
"protein_id": "NP_060597.4",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 826,
"cds_start": 2459,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2539,
"cdna_end": null,
"cdna_length": 3767,
"mane_select": "ENST00000338034.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2459C>T",
"hgvs_p": "p.Ala820Val",
"transcript": "ENST00000338034.9",
"protein_id": "ENSP00000337445.4",
"transcript_support_level": 1,
"aa_start": 820,
"aa_end": null,
"aa_length": 826,
"cds_start": 2459,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2539,
"cdna_end": null,
"cdna_length": 3767,
"mane_select": "NM_018127.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2456C>T",
"hgvs_p": "p.Ala819Val",
"transcript": "NM_173717.2",
"protein_id": "NP_776065.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 825,
"cds_start": 2456,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2536,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2402C>T",
"hgvs_p": "p.Ala801Val",
"transcript": "ENST00000395962.6",
"protein_id": "ENSP00000379291.1",
"transcript_support_level": 2,
"aa_start": 801,
"aa_end": null,
"aa_length": 807,
"cds_start": 2402,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 2476,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2339C>T",
"hgvs_p": "p.Ala780Val",
"transcript": "NM_001165962.2",
"protein_id": "NP_001159434.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 786,
"cds_start": 2339,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 2419,
"cdna_end": null,
"cdna_length": 3647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2339C>T",
"hgvs_p": "p.Ala780Val",
"transcript": "ENST00000426905.7",
"protein_id": "ENSP00000405223.3",
"transcript_support_level": 2,
"aa_start": 780,
"aa_end": null,
"aa_length": 786,
"cds_start": 2339,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 2391,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.1856C>T",
"hgvs_p": "p.Ala619Val",
"transcript": "ENST00000584650.5",
"protein_id": "ENSP00000463740.2",
"transcript_support_level": 2,
"aa_start": 619,
"aa_end": null,
"aa_length": 625,
"cds_start": 1856,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2177C>T",
"hgvs_p": "p.Ala726Val",
"transcript": "XM_024450860.2",
"protein_id": "XP_024306628.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 732,
"cds_start": 2177,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2312,
"cdna_end": null,
"cdna_length": 3540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "c.2177C>T",
"hgvs_p": "p.Ala726Val",
"transcript": "XM_024450861.2",
"protein_id": "XP_024306629.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 732,
"cds_start": 2177,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 3525,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "n.2346C>T",
"hgvs_p": null,
"transcript": "ENST00000465825.5",
"protein_id": null,
"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": 2793,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "n.2288C>T",
"hgvs_p": null,
"transcript": "ENST00000480891.5",
"protein_id": null,
"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": 2737,
"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": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "n.3289C>T",
"hgvs_p": null,
"transcript": "ENST00000484122.5",
"protein_id": null,
"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": 3738,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"hgvs_c": "n.2005C>T",
"hgvs_p": null,
"transcript": "ENST00000487229.6",
"protein_id": null,
"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": 2452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ELAC2",
"gene_hgnc_id": 14198,
"dbsnp": "rs1412024900",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06748181581497192,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.084,
"revel_prediction": "Benign",
"alphamissense_score": 0.0911,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.552,
"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": "ENST00000338034.9",
"gene_symbol": "ELAC2",
"hgnc_id": 14198,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2459C>T",
"hgvs_p": "p.Ala820Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}