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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: 13-71866526-TGCCGCCGCCGCC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=71866526&ref=TGCCGCCGCCGCC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 71866526,
"ref": "TGCCGCCGCCGCC",
"alt": "T",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000613252.5",
"consequences": [
{
"aa_ref": "GGGG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DACH1",
"gene_hgnc_id": 2663,
"hgvs_c": "c.232_243delGGCGGCGGCGGC",
"hgvs_p": "p.Gly78_Gly81del",
"transcript": "NM_080759.6",
"protein_id": "NP_542937.3",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 706,
"cds_start": 232,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 5245,
"mane_select": "ENST00000613252.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GGGG",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DACH1",
"gene_hgnc_id": 2663,
"hgvs_c": "c.232_243delGGCGGCGGCGGC",
"hgvs_p": "p.Gly78_Gly81del",
"transcript": "ENST00000613252.5",
"protein_id": "ENSP00000482245.1",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 706,
"cds_start": 232,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 5245,
"mane_select": "NM_080759.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GGGG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DACH1",
"gene_hgnc_id": 2663,
"hgvs_c": "c.232_243delGGCGGCGGCGGC",
"hgvs_p": "p.Gly78_Gly81del",
"transcript": "NM_001366712.1",
"protein_id": "NP_001353641.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 758,
"cds_start": 232,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 5401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GGGG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DACH1",
"gene_hgnc_id": 2663,
"hgvs_c": "c.232_243delGGCGGCGGCGGC",
"hgvs_p": "p.Gly78_Gly81del",
"transcript": "ENST00000619232.2",
"protein_id": "ENSP00000482797.1",
"transcript_support_level": 5,
"aa_start": 78,
"aa_end": null,
"aa_length": 758,
"cds_start": 232,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 5401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GGGG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DACH1",
"gene_hgnc_id": 2663,
"hgvs_c": "c.232_243delGGCGGCGGCGGC",
"hgvs_p": "p.Gly78_Gly81del",
"transcript": "NM_080760.6",
"protein_id": "NP_542938.3",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 558,
"cds_start": 232,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 4801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GGGG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DACH1",
"gene_hgnc_id": 2663,
"hgvs_c": "c.232_243delGGCGGCGGCGGC",
"hgvs_p": "p.Gly78_Gly81del",
"transcript": "NM_004392.7",
"protein_id": "NP_004383.4",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 504,
"cds_start": 232,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 4639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GGGG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DACH1",
"gene_hgnc_id": 2663,
"hgvs_c": "c.232_243delGGCGGCGGCGGC",
"hgvs_p": "p.Gly78_Gly81del",
"transcript": "XM_011534940.3",
"protein_id": "XP_011533242.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 614,
"cds_start": 232,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 7140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GGGG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DACH1",
"gene_hgnc_id": 2663,
"hgvs_c": "c.232_243delGGCGGCGGCGGC",
"hgvs_p": "p.Gly78_Gly81del",
"transcript": "XM_011534941.3",
"protein_id": "XP_011533243.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 379,
"cds_start": 232,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 5223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DACH1",
"gene_hgnc_id": 2663,
"hgvs_c": "c.-228_-217delGGCGGCGGCGGC",
"hgvs_p": null,
"transcript": "ENST00000706274.1",
"protein_id": "ENSP00000516320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 499,
"cds_start": -4,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DACH1",
"gene_hgnc_id": 2663,
"dbsnp": "rs748058171",
"frequency_reference_population": 0.0000332276,
"hom_count_reference_population": 1,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000311841,
"gnomad_genomes_af": 0.0000487418,
"gnomad_exomes_ac": 34,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.323,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000613252.5",
"gene_symbol": "DACH1",
"hgnc_id": 2663,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.232_243delGGCGGCGGCGGC",
"hgvs_p": "p.Gly78_Gly81del"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}