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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: 15-42730578-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42730578&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 42730578,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000356231.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "c.2174+20G>A",
"hgvs_p": null,
"transcript": "NM_138477.4",
"protein_id": "NP_612486.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1227,
"cds_start": -4,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4657,
"mane_select": "ENST00000356231.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "c.2174+20G>A",
"hgvs_p": null,
"transcript": "ENST00000356231.4",
"protein_id": "ENSP00000348564.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1227,
"cds_start": -4,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4657,
"mane_select": "NM_138477.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "n.167+20G>A",
"hgvs_p": null,
"transcript": "ENST00000562465.5",
"protein_id": "ENSP00000454246.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "n.*1352+20G>A",
"hgvs_p": null,
"transcript": "ENST00000643434.1",
"protein_id": "ENSP00000494699.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "c.2201+20G>A",
"hgvs_p": null,
"transcript": "XM_011521270.3",
"protein_id": "XP_011519572.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1236,
"cds_start": -4,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "c.2198+20G>A",
"hgvs_p": null,
"transcript": "XM_011521271.3",
"protein_id": "XP_011519573.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1235,
"cds_start": -4,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "c.2177+20G>A",
"hgvs_p": null,
"transcript": "XM_005254176.6",
"protein_id": "XP_005254233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1228,
"cds_start": -4,
"cds_end": null,
"cds_length": 3687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "c.2201+20G>A",
"hgvs_p": null,
"transcript": "XM_047432193.1",
"protein_id": "XP_047288149.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1084,
"cds_start": -4,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "c.2201+20G>A",
"hgvs_p": null,
"transcript": "XM_047432194.1",
"protein_id": "XP_047288150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1025,
"cds_start": -4,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "c.1166+20G>A",
"hgvs_p": null,
"transcript": "XM_011521274.3",
"protein_id": "XP_011519576.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 891,
"cds_start": -4,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "c.1166+20G>A",
"hgvs_p": null,
"transcript": "XM_047432195.1",
"protein_id": "XP_047288151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 891,
"cds_start": -4,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "n.2189+20G>A",
"hgvs_p": null,
"transcript": "XR_931757.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"dbsnp": "rs75993383",
"frequency_reference_population": 0.0047282274,
"hom_count_reference_population": 197,
"allele_count_reference_population": 7631,
"gnomad_exomes_af": 0.00296867,
"gnomad_genomes_af": 0.0216115,
"gnomad_exomes_ac": 4339,
"gnomad_genomes_ac": 3292,
"gnomad_exomes_homalt": 92,
"gnomad_genomes_homalt": 105,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.299,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000356231.4",
"gene_symbol": "CDAN1",
"hgnc_id": 1713,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2174+20G>A",
"hgvs_p": null
}
],
"clinvar_disease": " congenital dyserythropoietic, type 1a,Anemia,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "not specified|Anemia, congenital dyserythropoietic, type 1a|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}