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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: 16-67431345-C-CCGCTGCTGGCGGCGCTGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67431345&ref=C&alt=CCGCTGCTGGCGGCGCTGG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67431345,
"ref": "C",
"alt": "CCGCTGCTGGCGGCGCTGG",
"effect": "disruptive_inframe_insertion",
"transcript": "NM_000196.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "AALALLA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD11B2",
"gene_hgnc_id": 5209,
"hgvs_c": "c.108_125dupGGCGCTGGCGCTGCTGGC",
"hgvs_p": "p.Ala42_Ala43insAlaLeuAlaLeuLeuAla",
"transcript": "NM_000196.4",
"protein_id": "NP_000187.3",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 405,
"cds_start": 126,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326152.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000196.4"
},
{
"aa_ref": "A",
"aa_alt": "AALALLA",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD11B2",
"gene_hgnc_id": 5209,
"hgvs_c": "c.108_125dupGGCGCTGGCGCTGCTGGC",
"hgvs_p": "p.Ala42_Ala43insAlaLeuAlaLeuLeuAla",
"transcript": "ENST00000326152.6",
"protein_id": "ENSP00000316786.5",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 405,
"cds_start": 126,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000196.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326152.6"
},
{
"aa_ref": "A",
"aa_alt": "AALALLA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD11B2",
"gene_hgnc_id": 5209,
"hgvs_c": "c.108_125dupGGCGCTGGCGCTGCTGGC",
"hgvs_p": "p.Ala42_Ala43insAlaLeuAlaLeuLeuAla",
"transcript": "ENST00000855497.1",
"protein_id": "ENSP00000525556.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 403,
"cds_start": 126,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855497.1"
},
{
"aa_ref": "A",
"aa_alt": "AALALLA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD11B2",
"gene_hgnc_id": 5209,
"hgvs_c": "c.108_125dupGGCGCTGGCGCTGCTGGC",
"hgvs_p": "p.Ala42_Ala43insAlaLeuAlaLeuLeuAla",
"transcript": "ENST00000855496.1",
"protein_id": "ENSP00000525555.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 396,
"cds_start": 126,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855496.1"
},
{
"aa_ref": "A",
"aa_alt": "AALALLA",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD11B2",
"gene_hgnc_id": 5209,
"hgvs_c": "c.108_125dupGGCGCTGGCGCTGCTGGC",
"hgvs_p": "p.Ala42_Ala43insAlaLeuAlaLeuLeuAla",
"transcript": "ENST00000855495.1",
"protein_id": "ENSP00000525554.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 334,
"cds_start": 126,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855495.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HSD11B2",
"gene_hgnc_id": 5209,
"hgvs_c": "c.-48+577_-48+594dupGGCGCTGGCGCTGCTGGC",
"hgvs_p": null,
"transcript": "XM_047434048.1",
"protein_id": "XP_047290004.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 301,
"cds_start": null,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434048.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD11B2",
"gene_hgnc_id": 5209,
"hgvs_c": "n.-10_8dupGGCGCTGGCGCTGCTGGC",
"hgvs_p": null,
"transcript": "ENST00000566606.1",
"protein_id": "ENSP00000473429.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000566606.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261320",
"gene_hgnc_id": null,
"hgvs_c": "n.102_119dupCCAGCGCCGCCAGCAGCG",
"hgvs_p": null,
"transcript": "ENST00000567261.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000567261.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HSD11B2",
"gene_hgnc_id": 5209,
"hgvs_c": "n.128+577_128+594dupGGCGCTGGCGCTGCTGGC",
"hgvs_p": null,
"transcript": "ENST00000567684.2",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000567684.2"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HSD11B2",
"gene_hgnc_id": 5209,
"hgvs_c": "n.27+208_27+225dupGGCGCTGGCGCTGCTGGC",
"hgvs_p": null,
"transcript": "ENST00000569303.1",
"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": "retained_intron",
"feature": "ENST00000569303.1"
},
{
"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": "HSD11B2",
"gene_hgnc_id": 5209,
"hgvs_c": "n.-21_-20insCGCTGCTGGCGGCGCTGG",
"hgvs_p": null,
"transcript": "ENST00000566606.1",
"protein_id": "ENSP00000473429.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000566606.1"
}
],
"gene_symbol": "HSD11B2",
"gene_hgnc_id": 5209,
"dbsnp": "rs1175206597",
"frequency_reference_population": 0.00007006535,
"hom_count_reference_population": 1,
"allele_count_reference_population": 87,
"gnomad_exomes_af": 0.0000695735,
"gnomad_genomes_af": 0.0000736633,
"gnomad_exomes_ac": 76,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.03,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "PM4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000196.4",
"gene_symbol": "HSD11B2",
"hgnc_id": 5209,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.108_125dupGGCGCTGGCGCTGCTGGC",
"hgvs_p": "p.Ala42_Ala43insAlaLeuAlaLeuLeuAla"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000567261.1",
"gene_symbol": "ENSG00000261320",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.102_119dupCCAGCGCCGCCAGCAGCG",
"hgvs_p": null
}
],
"clinvar_disease": "Apparent mineralocorticoid excess",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Apparent mineralocorticoid excess",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}