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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: 14-74494093-TC-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=74494093&ref=TC&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ISCA2",
"hgnc_id": 19857,
"hgvs_c": "c.115_116delTCinsCT",
"hgvs_p": "p.Ser39Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_194279.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NPC2",
"hgnc_id": 14537,
"hgvs_c": "c.82_83delGAinsAG",
"hgvs_p": "p.Asp28Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000556009.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "14",
"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": "L",
"aa_end": null,
"aa_length": 154,
"aa_ref": "S",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2581,
"cdna_start": 125,
"cds_end": null,
"cds_length": 465,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_194279.4",
"gene_hgnc_id": 19857,
"gene_symbol": "ISCA2",
"hgvs_c": "c.115_116delTCinsCT",
"hgvs_p": "p.Ser39Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000556816.6",
"protein_coding": true,
"protein_id": "NP_919255.2",
"strand": true,
"transcript": "NM_194279.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 154,
"aa_ref": "S",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2581,
"cdna_start": 125,
"cds_end": null,
"cds_length": 465,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000556816.6",
"gene_hgnc_id": 19857,
"gene_symbol": "ISCA2",
"hgvs_c": "c.115_116delTCinsCT",
"hgvs_p": "p.Ser39Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_194279.4",
"protein_coding": true,
"protein_id": "ENSP00000452007.1",
"strand": true,
"transcript": "ENST00000556816.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 172,
"aa_ref": "D",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 699,
"cdna_start": 85,
"cds_end": null,
"cds_length": 519,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000556009.5",
"gene_hgnc_id": 14537,
"gene_symbol": "NPC2",
"hgvs_c": "c.82_83delGAinsAG",
"hgvs_p": "p.Asp28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450502.1",
"strand": false,
"transcript": "ENST00000556009.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 108,
"aa_ref": "S",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 851,
"cdna_start": 134,
"cds_end": null,
"cds_length": 327,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000298818.12",
"gene_hgnc_id": 19857,
"gene_symbol": "ISCA2",
"hgvs_c": "c.115_116delTCinsCT",
"hgvs_p": "p.Ser39Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000298818.8",
"strand": true,
"transcript": "ENST00000298818.12",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 60,
"aa_ref": "S",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2465,
"cdna_start": 125,
"cds_end": null,
"cds_length": 183,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001272007.2",
"gene_hgnc_id": 19857,
"gene_symbol": "ISCA2",
"hgvs_c": "c.115_116delTCinsCT",
"hgvs_p": "p.Ser39Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258936.1",
"strand": true,
"transcript": "NM_001272007.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 60,
"aa_ref": "S",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 489,
"cdna_start": 125,
"cds_end": null,
"cds_length": 183,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554924.1",
"gene_hgnc_id": 19857,
"gene_symbol": "ISCA2",
"hgvs_c": "c.115_116delTCinsCT",
"hgvs_p": "p.Ser39Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450523.1",
"strand": true,
"transcript": "ENST00000554924.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 81,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 629,
"cdna_start": null,
"cds_end": null,
"cds_length": 246,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857193.1",
"gene_hgnc_id": 19857,
"gene_symbol": "ISCA2",
"hgvs_c": "c.71+248_71+249delTCinsCT",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527252.1",
"strand": true,
"transcript": "ENST00000857193.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 925,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000555139.1",
"gene_hgnc_id": 19857,
"gene_symbol": "ISCA2",
"hgvs_c": "n.118_119delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000555139.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 19857,
"gene_symbol": "ISCA2",
"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": 2.614,
"pos": 74494093,
"ref": "TC",
"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_194279.4"
}
]
}