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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: 6-32048363-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32048363&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32048363,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001428335.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "c.10045G>T",
"hgvs_p": "p.Ala3349Ser",
"transcript": "NM_001365276.2",
"protein_id": "NP_001352205.1",
"transcript_support_level": null,
"aa_start": 3349,
"aa_end": null,
"aa_length": 4244,
"cds_start": 10045,
"cds_end": null,
"cds_length": 12735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000644971.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365276.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "c.10045G>T",
"hgvs_p": "p.Ala3349Ser",
"transcript": "ENST00000644971.2",
"protein_id": "ENSP00000496448.1",
"transcript_support_level": null,
"aa_start": 3349,
"aa_end": null,
"aa_length": 4244,
"cds_start": 10045,
"cds_end": null,
"cds_length": 12735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365276.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644971.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "c.10786G>T",
"hgvs_p": "p.Ala3596Ser",
"transcript": "NM_001428335.1",
"protein_id": "NP_001415264.1",
"transcript_support_level": null,
"aa_start": 3596,
"aa_end": null,
"aa_length": 4491,
"cds_start": 10786,
"cds_end": null,
"cds_length": 13476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001428335.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "c.10786G>T",
"hgvs_p": "p.Ala3596Ser",
"transcript": "ENST00000647633.1",
"protein_id": "ENSP00000497649.1",
"transcript_support_level": null,
"aa_start": 3596,
"aa_end": null,
"aa_length": 4491,
"cds_start": 10786,
"cds_end": null,
"cds_length": 13476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647633.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "c.10045G>T",
"hgvs_p": "p.Ala3349Ser",
"transcript": "ENST00000375244.7",
"protein_id": "ENSP00000364393.3",
"transcript_support_level": 5,
"aa_start": 3349,
"aa_end": null,
"aa_length": 4244,
"cds_start": 10045,
"cds_end": null,
"cds_length": 12735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375244.7"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "c.10039G>T",
"hgvs_p": "p.Ala3347Ser",
"transcript": "NM_019105.8",
"protein_id": "NP_061978.6",
"transcript_support_level": null,
"aa_start": 3347,
"aa_end": null,
"aa_length": 4242,
"cds_start": 10039,
"cds_end": null,
"cds_length": 12729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019105.8"
}
],
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"dbsnp": "rs529527925",
"frequency_reference_population": 0.0000037805469,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000378055,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07977235317230225,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.6480000019073486,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.044,
"revel_prediction": "Benign",
"alphamissense_score": 0.0769,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.33,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.882925021576316,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001428335.1",
"gene_symbol": "TNXB",
"hgnc_id": 11976,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.10786G>T",
"hgvs_p": "p.Ala3596Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}