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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: 11-69067504-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=69067504&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 69067504,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_139075.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.728A>G",
"hgvs_p": "p.Gln243Arg",
"transcript": "NM_139075.4",
"protein_id": "NP_620714.2",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 752,
"cds_start": 728,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 4969,
"mane_select": "ENST00000294309.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.728A>G",
"hgvs_p": "p.Gln243Arg",
"transcript": "ENST00000294309.8",
"protein_id": "ENSP00000294309.3",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 752,
"cds_start": 728,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 4969,
"mane_select": "NM_139075.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.728A>G",
"hgvs_p": "p.Gln243Arg",
"transcript": "ENST00000637342.1",
"protein_id": "ENSP00000490171.1",
"transcript_support_level": 5,
"aa_start": 243,
"aa_end": null,
"aa_length": 698,
"cds_start": 728,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.728A>G",
"hgvs_p": "p.Gln243Arg",
"transcript": "ENST00000637504.1",
"protein_id": "ENSP00000489759.1",
"transcript_support_level": 5,
"aa_start": 243,
"aa_end": null,
"aa_length": 584,
"cds_start": 728,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 2736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.728A>G",
"hgvs_p": "p.Gln243Arg",
"transcript": "ENST00000542467.1",
"protein_id": "ENSP00000445551.1",
"transcript_support_level": 2,
"aa_start": 243,
"aa_end": null,
"aa_length": 570,
"cds_start": 728,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "n.490A>G",
"hgvs_p": null,
"transcript": "ENST00000442692.2",
"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": 4376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "n.537A>G",
"hgvs_p": null,
"transcript": "ENST00000535009.5",
"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": 2175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "n.728A>G",
"hgvs_p": null,
"transcript": "ENST00000635811.1",
"protein_id": "ENSP00000490341.1",
"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": 3824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"dbsnp": "rs1274319510",
"frequency_reference_population": 0.000029756997,
"hom_count_reference_population": 0,
"allele_count_reference_population": 48,
"gnomad_exomes_af": 0.0000314883,
"gnomad_genomes_af": 0.0000131399,
"gnomad_exomes_ac": 46,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19430330395698547,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.06199999898672104,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.539,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0658,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.278,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0051445380702491,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_139075.4",
"gene_symbol": "TPCN2",
"hgnc_id": 20820,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.728A>G",
"hgvs_p": "p.Gln243Arg"
}
],
"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
}