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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: 10-4995770-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=4995770&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 4995770,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000380753.9",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.666T>C",
"hgvs_p": "p.His222His",
"transcript": "NM_001393392.1",
"protein_id": "NP_001380321.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 323,
"cds_start": 666,
"cds_end": null,
"cds_length": 972,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 3215,
"mane_select": "ENST00000380753.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.666T>C",
"hgvs_p": "p.His222His",
"transcript": "ENST00000380753.9",
"protein_id": "ENSP00000370129.4",
"transcript_support_level": 1,
"aa_start": 222,
"aa_end": null,
"aa_length": 323,
"cds_start": 666,
"cds_end": null,
"cds_length": 972,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 3215,
"mane_select": "NM_001393392.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.588T>C",
"hgvs_p": "p.His196His",
"transcript": "ENST00000421196.7",
"protein_id": "ENSP00000392694.2",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 297,
"cds_start": 588,
"cds_end": null,
"cds_length": 894,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 1481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.666T>C",
"hgvs_p": "p.His222His",
"transcript": "NM_001354.6",
"protein_id": "NP_001345.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 323,
"cds_start": 666,
"cds_end": null,
"cds_length": 972,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 3573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.666T>C",
"hgvs_p": "p.His222His",
"transcript": "NM_205845.3",
"protein_id": "NP_995317.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 323,
"cds_start": 666,
"cds_end": null,
"cds_length": 972,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 3473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.588T>C",
"hgvs_p": "p.His196His",
"transcript": "NM_001321027.2",
"protein_id": "NP_001307956.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 297,
"cds_start": 588,
"cds_end": null,
"cds_length": 894,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 3137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.666T>C",
"hgvs_p": "p.His222His",
"transcript": "XM_047424682.1",
"protein_id": "XP_047280638.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 323,
"cds_start": 666,
"cds_end": null,
"cds_length": 972,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.666T>C",
"hgvs_p": "p.His222His",
"transcript": "XM_047424683.1",
"protein_id": "XP_047280639.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 323,
"cds_start": 666,
"cds_end": null,
"cds_length": 972,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 3966,
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "n.2126T>C",
"hgvs_p": null,
"transcript": "ENST00000460124.5",
"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": 2639,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000224251",
"gene_hgnc_id": null,
"hgvs_c": "n.180+103A>G",
"hgvs_p": null,
"transcript": "ENST00000451575.6",
"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": 425,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "LOC101928051",
"gene_hgnc_id": null,
"hgvs_c": "n.90+103A>G",
"hgvs_p": null,
"transcript": "NR_188167.1",
"protein_id": null,
"transcript_support_level": null,
"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": 738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000224251",
"gene_hgnc_id": null,
"hgvs_c": "n.-112A>G",
"hgvs_p": null,
"transcript": "ENST00000440414.1",
"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": 302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"hgvs_c": "c.*64T>C",
"hgvs_p": null,
"transcript": "ENST00000604507.5",
"protein_id": "ENSP00000474566.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": -4,
"cds_end": null,
"cds_length": 602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AKR1C2",
"gene_hgnc_id": 385,
"dbsnp": "rs13222",
"frequency_reference_population": 0.0026238172,
"hom_count_reference_population": 85,
"allele_count_reference_population": 4190,
"gnomad_exomes_af": 0.00110724,
"gnomad_genomes_af": 0.017644,
"gnomad_exomes_ac": 1606,
"gnomad_genomes_ac": 2584,
"gnomad_exomes_homalt": 38,
"gnomad_genomes_homalt": 47,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9599999785423279,
"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": -0.96,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.507,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000380753.9",
"gene_symbol": "AKR1C2",
"hgnc_id": 385,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.666T>C",
"hgvs_p": "p.His222His"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000451575.6",
"gene_symbol": "ENSG00000224251",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.180+103A>G",
"hgvs_p": null
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NR_188167.1",
"gene_symbol": "LOC101928051",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.90+103A>G",
"hgvs_p": null
}
],
"clinvar_disease": "20-desmolase deficiency,46,AKR1C2-related disorder,CIC-rearranged sarcoma,XY disorder of sex development due to testicular 17,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "CIC-rearranged sarcoma|not specified|AKR1C2-related disorder|46,XY disorder of sex development due to testicular 17,20-desmolase deficiency",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}