← Back to variant description
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: 10-103277368-GCC-TCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=103277368&ref=GCC&alt=TCA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "INA",
"hgnc_id": 6057,
"hgvs_c": "c.157_159delGCCinsTCA",
"hgvs_p": "p.Ala53Ser",
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_032727.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "NT5C2",
"hgnc_id": 8022,
"hgvs_c": "c.-241_-239delGGCinsTGA",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000676449.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP2",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 499,
"aa_ref": "A",
"aa_start": 53,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3251,
"cdna_start": 231,
"cds_end": null,
"cds_length": 1500,
"cds_start": 157,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032727.4",
"gene_hgnc_id": 6057,
"gene_symbol": "INA",
"hgvs_c": "c.157_159delGCCinsTCA",
"hgvs_p": "p.Ala53Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369849.9",
"protein_coding": true,
"protein_id": "NP_116116.1",
"strand": true,
"transcript": "NM_032727.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 499,
"aa_ref": "A",
"aa_start": 53,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3251,
"cdna_start": 231,
"cds_end": null,
"cds_length": 1500,
"cds_start": 157,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369849.9",
"gene_hgnc_id": 6057,
"gene_symbol": "INA",
"hgvs_c": "c.157_159delGCCinsTCA",
"hgvs_p": "p.Ala53Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032727.4",
"protein_coding": true,
"protein_id": "ENSP00000358865.4",
"strand": true,
"transcript": "ENST00000369849.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 494,
"aa_ref": "A",
"aa_start": 53,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3240,
"cdna_start": 230,
"cds_end": null,
"cds_length": 1485,
"cds_start": 157,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000912062.1",
"gene_hgnc_id": 6057,
"gene_symbol": "INA",
"hgvs_c": "c.157_159delGCCinsTCA",
"hgvs_p": "p.Ala53Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582121.1",
"strand": true,
"transcript": "ENST00000912062.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 561,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3670,
"cdna_start": null,
"cds_end": null,
"cds_length": 1686,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000676449.1",
"gene_hgnc_id": 8022,
"gene_symbol": "NT5C2",
"hgvs_c": "c.-241_-239delGGCinsTGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502801.1",
"strand": false,
"transcript": "ENST00000676449.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 561,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3889,
"cdna_start": null,
"cds_end": null,
"cds_length": 1686,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000964133.1",
"gene_hgnc_id": 8022,
"gene_symbol": "NT5C2",
"hgvs_c": "c.-339_-337delGGCinsTGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634192.1",
"strand": false,
"transcript": "ENST00000964133.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 561,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3118,
"cdna_start": null,
"cds_end": null,
"cds_length": 1686,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675326.1",
"gene_hgnc_id": 8022,
"gene_symbol": "NT5C2",
"hgvs_c": "c.-385_-383delGGCinsTGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502205.1",
"strand": true,
"transcript": "ENST00000675326.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 561,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3425,
"cdna_start": null,
"cds_end": null,
"cds_length": 1686,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676428.1",
"gene_hgnc_id": 8022,
"gene_symbol": "NT5C2",
"hgvs_c": "c.-334_-332delGGCinsTGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501689.1",
"strand": true,
"transcript": "ENST00000676428.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 6057,
"gene_symbol": "INA",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.222,
"pos": 103277368,
"ref": "GCC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_032727.4"
}
]
}