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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: 3-185192581-G-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=185192581&ref=G&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 185192581,
"ref": "G",
"alt": "GC",
"effect": "frameshift_variant",
"transcript": "NM_001966.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHHADH",
"gene_hgnc_id": 3247,
"hgvs_c": "c.1816_1817insG",
"hgvs_p": "p.Thr606fs",
"transcript": "NM_001966.4",
"protein_id": "NP_001957.2",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 723,
"cds_start": 1816,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 3801,
"mane_select": "ENST00000231887.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001966.4"
},
{
"aa_ref": "T",
"aa_alt": "S?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHHADH",
"gene_hgnc_id": 3247,
"hgvs_c": "c.1816_1817insG",
"hgvs_p": "p.Thr606fs",
"transcript": "ENST00000231887.8",
"protein_id": "ENSP00000231887.3",
"transcript_support_level": 1,
"aa_start": 606,
"aa_end": null,
"aa_length": 723,
"cds_start": 1816,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 3801,
"mane_select": "NM_001966.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000231887.8"
},
{
"aa_ref": "T",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHHADH",
"gene_hgnc_id": 3247,
"hgvs_c": "c.1804_1805insG",
"hgvs_p": "p.Thr602fs",
"transcript": "ENST00000890155.1",
"protein_id": "ENSP00000560214.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 719,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1831,
"cdna_end": null,
"cdna_length": 3786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890155.1"
},
{
"aa_ref": "T",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHHADH",
"gene_hgnc_id": 3247,
"hgvs_c": "c.1711_1712insG",
"hgvs_p": "p.Thr571fs",
"transcript": "ENST00000890154.1",
"protein_id": "ENSP00000560213.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 688,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1741,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890154.1"
},
{
"aa_ref": "T",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHHADH",
"gene_hgnc_id": 3247,
"hgvs_c": "c.1528_1529insG",
"hgvs_p": "p.Thr510fs",
"transcript": "NM_001166415.2",
"protein_id": "NP_001159887.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 627,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1966,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166415.2"
},
{
"aa_ref": "T",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHHADH",
"gene_hgnc_id": 3247,
"hgvs_c": "c.1528_1529insG",
"hgvs_p": "p.Thr510fs",
"transcript": "ENST00000456310.5",
"protein_id": "ENSP00000387746.1",
"transcript_support_level": 2,
"aa_start": 510,
"aa_end": null,
"aa_length": 627,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1965,
"cdna_end": null,
"cdna_length": 2577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456310.5"
},
{
"aa_ref": "T",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHHADH",
"gene_hgnc_id": 3247,
"hgvs_c": "c.1474_1475insG",
"hgvs_p": "p.Thr492fs",
"transcript": "ENST00000890153.1",
"protein_id": "ENSP00000560212.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 609,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890153.1"
},
{
"aa_ref": "T",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHHADH",
"gene_hgnc_id": 3247,
"hgvs_c": "c.1192_1193insG",
"hgvs_p": "p.Thr398fs",
"transcript": "XM_047447640.1",
"protein_id": "XP_047303596.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 515,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 3391,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447640.1"
},
{
"aa_ref": "T",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHHADH",
"gene_hgnc_id": 3247,
"hgvs_c": "c.1192_1193insG",
"hgvs_p": "p.Thr398fs",
"transcript": "XM_047447641.1",
"protein_id": "XP_047303597.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 515,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 3383,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447641.1"
}
],
"gene_symbol": "EHHADH",
"gene_hgnc_id": 3247,
"dbsnp": "rs1553775828",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.099,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001966.4",
"gene_symbol": "EHHADH",
"hgnc_id": 3247,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1816_1817insG",
"hgvs_p": "p.Thr606fs"
}
],
"clinvar_disease": "Fanconi renotubular syndrome 1",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Fanconi renotubular syndrome 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}