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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: 15-42729066-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42729066&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 42729066,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000356231.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "c.2602T>A",
"hgvs_p": "p.Phe868Ile",
"transcript": "NM_138477.4",
"protein_id": "NP_612486.2",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1227,
"cds_start": 2602,
"cds_end": null,
"cds_length": 3684,
"cdna_start": 2628,
"cdna_end": null,
"cdna_length": 4657,
"mane_select": "ENST00000356231.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "c.2602T>A",
"hgvs_p": "p.Phe868Ile",
"transcript": "ENST00000356231.4",
"protein_id": "ENSP00000348564.3",
"transcript_support_level": 1,
"aa_start": 868,
"aa_end": null,
"aa_length": 1227,
"cds_start": 2602,
"cds_end": null,
"cds_length": 3684,
"cdna_start": 2628,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "n.595T>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": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "c.2629T>A",
"hgvs_p": "p.Phe877Ile",
"transcript": "XM_011521270.3",
"protein_id": "XP_011519572.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 1236,
"cds_start": 2629,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 2655,
"cdna_end": null,
"cdna_length": 4684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "c.2626T>A",
"hgvs_p": "p.Phe876Ile",
"transcript": "XM_011521271.3",
"protein_id": "XP_011519573.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 1235,
"cds_start": 2626,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 2652,
"cdna_end": null,
"cdna_length": 4681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "c.2605T>A",
"hgvs_p": "p.Phe869Ile",
"transcript": "XM_005254176.6",
"protein_id": "XP_005254233.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1228,
"cds_start": 2605,
"cds_end": null,
"cds_length": 3687,
"cdna_start": 2631,
"cdna_end": null,
"cdna_length": 4660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "c.2629T>A",
"hgvs_p": "p.Phe877Ile",
"transcript": "XM_047432193.1",
"protein_id": "XP_047288149.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2629,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 2655,
"cdna_end": null,
"cdna_length": 3439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "c.2629T>A",
"hgvs_p": "p.Phe877Ile",
"transcript": "XM_047432194.1",
"protein_id": "XP_047288150.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2629,
"cds_end": null,
"cds_length": 3078,
"cdna_start": 2655,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "c.1594T>A",
"hgvs_p": "p.Phe532Ile",
"transcript": "XM_011521274.3",
"protein_id": "XP_011519576.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 891,
"cds_start": 1594,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 3734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "c.1594T>A",
"hgvs_p": "p.Phe532Ile",
"transcript": "XM_047432195.1",
"protein_id": "XP_047288151.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 891,
"cds_start": 1594,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 1860,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "n.*1780T>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": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"hgvs_c": "n.*1780T>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
}
],
"gene_symbol": "CDAN1",
"gene_hgnc_id": 1713,
"dbsnp": "rs120074168",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.985241174697876,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.937,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9874,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.947,
"phylop100way_prediction": "Pathogenic",
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000356231.4",
"gene_symbol": "CDAN1",
"hgnc_id": 1713,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2602T>A",
"hgvs_p": "p.Phe868Ile"
}
],
"clinvar_disease": " type I,Congenital dyserythropoietic anemia",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Congenital dyserythropoietic anemia, type I",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}