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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: 10-5097493-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=5097493&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 5097493,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000380554.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C3",
"gene_hgnc_id": 386,
"hgvs_c": "c.312G>A",
"hgvs_p": "p.Lys104Lys",
"transcript": "NM_003739.6",
"protein_id": "NP_003730.4",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 323,
"cds_start": 312,
"cds_end": null,
"cds_length": 972,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 1186,
"mane_select": "ENST00000380554.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C3",
"gene_hgnc_id": 386,
"hgvs_c": "c.312G>A",
"hgvs_p": "p.Lys104Lys",
"transcript": "ENST00000380554.5",
"protein_id": "ENSP00000369927.3",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 323,
"cds_start": 312,
"cds_end": null,
"cds_length": 972,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 1186,
"mane_select": "NM_003739.6",
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C3",
"gene_hgnc_id": 386,
"hgvs_c": "n.343G>A",
"hgvs_p": null,
"transcript": "ENST00000480697.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 1026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "AKR1C3",
"gene_hgnc_id": 386,
"hgvs_c": "n.279+916G>A",
"hgvs_p": null,
"transcript": "ENST00000605322.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C3",
"gene_hgnc_id": 386,
"hgvs_c": "c.312G>A",
"hgvs_p": "p.Lys104Lys",
"transcript": "NM_001253908.2",
"protein_id": "NP_001240837.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 323,
"cds_start": 312,
"cds_end": null,
"cds_length": 972,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 1186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C3",
"gene_hgnc_id": 386,
"hgvs_c": "c.312G>A",
"hgvs_p": "p.Lys104Lys",
"transcript": "ENST00000439082.7",
"protein_id": "ENSP00000401327.3",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 323,
"cds_start": 312,
"cds_end": null,
"cds_length": 972,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C3",
"gene_hgnc_id": 386,
"hgvs_c": "c.243G>A",
"hgvs_p": "p.Lys81Lys",
"transcript": "ENST00000605149.5",
"protein_id": "ENSP00000474882.1",
"transcript_support_level": 2,
"aa_start": 81,
"aa_end": null,
"aa_length": 300,
"cds_start": 243,
"cds_end": null,
"cds_length": 903,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 1405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C3",
"gene_hgnc_id": 386,
"hgvs_c": "c.243G>A",
"hgvs_p": "p.Lys81Lys",
"transcript": "ENST00000602997.5",
"protein_id": "ENSP00000474188.1",
"transcript_support_level": 3,
"aa_start": 81,
"aa_end": null,
"aa_length": 154,
"cds_start": 243,
"cds_end": null,
"cds_length": 466,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C3",
"gene_hgnc_id": 386,
"hgvs_c": "c.312G>A",
"hgvs_p": "p.Lys104Lys",
"transcript": "NM_001253909.2",
"protein_id": "NP_001240838.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 138,
"cds_start": 312,
"cds_end": null,
"cds_length": 417,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 1026,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C3",
"gene_hgnc_id": 386,
"hgvs_c": "n.956G>A",
"hgvs_p": null,
"transcript": "ENST00000470862.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 996,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C3",
"gene_hgnc_id": 386,
"hgvs_c": "n.751G>A",
"hgvs_p": null,
"transcript": "ENST00000480822.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 795,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C3",
"gene_hgnc_id": 386,
"hgvs_c": "n.493G>A",
"hgvs_p": null,
"transcript": "ENST00000603312.1",
"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": 528,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C3",
"gene_hgnc_id": 386,
"hgvs_c": "n.491G>A",
"hgvs_p": null,
"transcript": "ENST00000605781.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AKR1C3",
"gene_hgnc_id": 386,
"dbsnp": "rs12387",
"frequency_reference_population": 0.8311653,
"hom_count_reference_population": 557957,
"allele_count_reference_population": 1341160,
"gnomad_exomes_af": 0.829807,
"gnomad_genomes_af": 0.844214,
"gnomad_exomes_ac": 1212755,
"gnomad_genomes_ac": 128405,
"gnomad_exomes_homalt": 503739,
"gnomad_genomes_homalt": 54218,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9700000286102295,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.97,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.898,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000380554.5",
"gene_symbol": "AKR1C3",
"hgnc_id": 386,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.312G>A",
"hgvs_p": "p.Lys104Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}