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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: 7-120742602-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=120742602&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "KCND2",
"hgnc_id": 6238,
"hgvs_c": "c.1467G>C",
"hgvs_p": "p.Thr489Thr",
"inheritance_mode": "AD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_012281.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11400000005960464,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 630,
"aa_ref": "T",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5830,
"cdna_start": 2925,
"cds_end": null,
"cds_length": 1893,
"cds_start": 1467,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_012281.3",
"gene_hgnc_id": 6238,
"gene_symbol": "KCND2",
"hgvs_c": "c.1467G>C",
"hgvs_p": "p.Thr489Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000331113.9",
"protein_coding": true,
"protein_id": "NP_036413.1",
"strand": true,
"transcript": "NM_012281.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 630,
"aa_ref": "T",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5830,
"cdna_start": 2925,
"cds_end": null,
"cds_length": 1893,
"cds_start": 1467,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000331113.9",
"gene_hgnc_id": 6238,
"gene_symbol": "KCND2",
"hgvs_c": "c.1467G>C",
"hgvs_p": "p.Thr489Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012281.3",
"protein_coding": true,
"protein_id": "ENSP00000333496.4",
"strand": true,
"transcript": "ENST00000331113.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 175,
"aa_ref": "T",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 530,
"cdna_start": 224,
"cds_end": null,
"cds_length": 528,
"cds_start": 222,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000425288.1",
"gene_hgnc_id": 6238,
"gene_symbol": "KCND2",
"hgvs_c": "c.222G>C",
"hgvs_p": "p.Thr74Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415463.1",
"strand": true,
"transcript": "ENST00000425288.1",
"transcript_support_level": 4
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 630,
"aa_ref": "T",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5918,
"cdna_start": 3013,
"cds_end": null,
"cds_length": 1893,
"cds_start": 1467,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047420346.1",
"gene_hgnc_id": 6238,
"gene_symbol": "KCND2",
"hgvs_c": "c.1467G>C",
"hgvs_p": "p.Thr489Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047276302.1",
"strand": true,
"transcript": "XM_047420346.1",
"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": 572,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000473190.1",
"gene_hgnc_id": 6238,
"gene_symbol": "KCND2",
"hgvs_c": "n.282G>C",
"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": "ENST00000473190.1",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999981301880687,
"dbsnp": null,
"effect": "splice_region_variant,synonymous_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 6238,
"gene_symbol": "KCND2",
"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": 3,
"pos": 120742602,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.114,
"splice_prediction_selected": "Pathogenic",
"splice_score_selected": 0.9860000014305115,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Uncertain_significance",
"spliceai_max_score": 0.42,
"transcript": "NM_012281.3"
}
]
}