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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: 10-4968882-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=4968882&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 4968882,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001353.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C1",
"gene_hgnc_id": 384,
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170Cys",
"transcript": "NM_001353.6",
"protein_id": "NP_001344.2",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 323,
"cds_start": 508,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380872.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C1",
"gene_hgnc_id": 384,
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170Cys",
"transcript": "ENST00000380872.9",
"protein_id": "ENSP00000370254.4",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 323,
"cds_start": 508,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001353.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380872.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C1",
"gene_hgnc_id": 384,
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170Cys",
"transcript": "ENST00000970520.1",
"protein_id": "ENSP00000640579.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 321,
"cds_start": 508,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970520.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C1",
"gene_hgnc_id": 384,
"hgvs_c": "c.430C>T",
"hgvs_p": "p.Arg144Cys",
"transcript": "ENST00000859341.1",
"protein_id": "ENSP00000529400.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 297,
"cds_start": 430,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859341.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C1",
"gene_hgnc_id": 384,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140Cys",
"transcript": "ENST00000859340.1",
"protein_id": "ENSP00000529399.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 293,
"cds_start": 418,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859340.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C1",
"gene_hgnc_id": 384,
"hgvs_c": "c.340C>T",
"hgvs_p": "p.Arg114Cys",
"transcript": "ENST00000859342.1",
"protein_id": "ENSP00000529401.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 267,
"cds_start": 340,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859342.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C1",
"gene_hgnc_id": 384,
"hgvs_c": "c.406C>T",
"hgvs_p": "p.Arg136Cys",
"transcript": "ENST00000442997.5",
"protein_id": "ENSP00000416415.1",
"transcript_support_level": 3,
"aa_start": 136,
"aa_end": null,
"aa_length": 246,
"cds_start": 406,
"cds_end": null,
"cds_length": 742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442997.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C1",
"gene_hgnc_id": 384,
"hgvs_c": "c.223C>T",
"hgvs_p": "p.Arg75Cys",
"transcript": "ENST00000859343.1",
"protein_id": "ENSP00000529402.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 228,
"cds_start": 223,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859343.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C1",
"gene_hgnc_id": 384,
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"transcript": "ENST00000380859.1",
"protein_id": "ENSP00000370240.1",
"transcript_support_level": 3,
"aa_start": 172,
"aa_end": null,
"aa_length": 205,
"cds_start": 514,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380859.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C1",
"gene_hgnc_id": 384,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Arg49Cys",
"transcript": "ENST00000970521.1",
"protein_id": "ENSP00000640580.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 202,
"cds_start": 145,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970521.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C1",
"gene_hgnc_id": 384,
"hgvs_c": "n.1965C>T",
"hgvs_p": null,
"transcript": "ENST00000477661.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000477661.1"
}
],
"gene_symbol": "AKR1C1",
"gene_hgnc_id": 384,
"dbsnp": "rs149814010",
"frequency_reference_population": 0.00011213513,
"hom_count_reference_population": 0,
"allele_count_reference_population": 181,
"gnomad_exomes_af": 0.000114235,
"gnomad_genomes_af": 0.0000919661,
"gnomad_exomes_ac": 167,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07675200700759888,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.126,
"revel_prediction": "Benign",
"alphamissense_score": 0.1096,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.86,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001353.6",
"gene_symbol": "AKR1C1",
"hgnc_id": 384,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170Cys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}