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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: 15-42730760-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42730760&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CDAN1",
"hgnc_id": 1713,
"hgvs_c": "c.2012C>T",
"hgvs_p": "p.Pro671Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_138477.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.084,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.05,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3098457157611847,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1227,
"aa_ref": "P",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4657,
"cdna_start": 2038,
"cds_end": null,
"cds_length": 3684,
"cds_start": 2012,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_138477.4",
"gene_hgnc_id": 1713,
"gene_symbol": "CDAN1",
"hgvs_c": "c.2012C>T",
"hgvs_p": "p.Pro671Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356231.4",
"protein_coding": true,
"protein_id": "NP_612486.2",
"strand": false,
"transcript": "NM_138477.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1227,
"aa_ref": "P",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4657,
"cdna_start": 2038,
"cds_end": null,
"cds_length": 3684,
"cds_start": 2012,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000356231.4",
"gene_hgnc_id": 1713,
"gene_symbol": "CDAN1",
"hgvs_c": "c.2012C>T",
"hgvs_p": "p.Pro671Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_138477.4",
"protein_coding": true,
"protein_id": "ENSP00000348564.3",
"strand": false,
"transcript": "ENST00000356231.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2562,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000562465.5",
"gene_hgnc_id": 1713,
"gene_symbol": "CDAN1",
"hgvs_c": "n.5C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000454246.1",
"strand": false,
"transcript": "ENST00000562465.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1228,
"aa_ref": "P",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4675,
"cdna_start": 2069,
"cds_end": null,
"cds_length": 3687,
"cds_start": 2015,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000913682.1",
"gene_hgnc_id": 1713,
"gene_symbol": "CDAN1",
"hgvs_c": "c.2015C>T",
"hgvs_p": "p.Pro672Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583741.1",
"strand": false,
"transcript": "ENST00000913682.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1219,
"aa_ref": "P",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4610,
"cdna_start": 2033,
"cds_end": null,
"cds_length": 3660,
"cds_start": 2012,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000913683.1",
"gene_hgnc_id": 1713,
"gene_symbol": "CDAN1",
"hgvs_c": "c.2012C>T",
"hgvs_p": "p.Pro671Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583742.1",
"strand": false,
"transcript": "ENST00000913683.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1213,
"aa_ref": "P",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4586,
"cdna_start": 1985,
"cds_end": null,
"cds_length": 3642,
"cds_start": 1970,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000913684.1",
"gene_hgnc_id": 1713,
"gene_symbol": "CDAN1",
"hgvs_c": "c.1970C>T",
"hgvs_p": "p.Pro657Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583743.1",
"strand": false,
"transcript": "ENST00000913684.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1120,
"aa_ref": "P",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4315,
"cdna_start": 1716,
"cds_end": null,
"cds_length": 3363,
"cds_start": 1691,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000959718.1",
"gene_hgnc_id": 1713,
"gene_symbol": "CDAN1",
"hgvs_c": "c.1691C>T",
"hgvs_p": "p.Pro564Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629777.1",
"strand": false,
"transcript": "ENST00000959718.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1236,
"aa_ref": "P",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4684,
"cdna_start": 2065,
"cds_end": null,
"cds_length": 3711,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011521270.3",
"gene_hgnc_id": 1713,
"gene_symbol": "CDAN1",
"hgvs_c": "c.2039C>T",
"hgvs_p": "p.Pro680Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519572.1",
"strand": false,
"transcript": "XM_011521270.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1235,
"aa_ref": "P",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4681,
"cdna_start": 2062,
"cds_end": null,
"cds_length": 3708,
"cds_start": 2036,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011521271.3",
"gene_hgnc_id": 1713,
"gene_symbol": "CDAN1",
"hgvs_c": "c.2036C>T",
"hgvs_p": "p.Pro679Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519573.1",
"strand": false,
"transcript": "XM_011521271.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1228,
"aa_ref": "P",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4660,
"cdna_start": 2041,
"cds_end": null,
"cds_length": 3687,
"cds_start": 2015,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_005254176.6",
"gene_hgnc_id": 1713,
"gene_symbol": "CDAN1",
"hgvs_c": "c.2015C>T",
"hgvs_p": "p.Pro672Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005254233.1",
"strand": false,
"transcript": "XM_005254176.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1084,
"aa_ref": "P",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3439,
"cdna_start": 2065,
"cds_end": null,
"cds_length": 3255,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047432193.1",
"gene_hgnc_id": 1713,
"gene_symbol": "CDAN1",
"hgvs_c": "c.2039C>T",
"hgvs_p": "p.Pro680Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288149.1",
"strand": false,
"transcript": "XM_047432193.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1025,
"aa_ref": "P",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3192,
"cdna_start": 2065,
"cds_end": null,
"cds_length": 3078,
"cds_start": 2039,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047432194.1",
"gene_hgnc_id": 1713,
"gene_symbol": "CDAN1",
"hgvs_c": "c.2039C>T",
"hgvs_p": "p.Pro680Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288150.1",
"strand": false,
"transcript": "XM_047432194.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 891,
"aa_ref": "P",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3734,
"cdna_start": 1115,
"cds_end": null,
"cds_length": 2676,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011521274.3",
"gene_hgnc_id": 1713,
"gene_symbol": "CDAN1",
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519576.1",
"strand": false,
"transcript": "XM_011521274.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 891,
"aa_ref": "P",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3889,
"cdna_start": 1270,
"cds_end": null,
"cds_length": 2676,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047432195.1",
"gene_hgnc_id": 1713,
"gene_symbol": "CDAN1",
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288151.1",
"strand": false,
"transcript": "XM_047432195.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3901,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000643434.1",
"gene_hgnc_id": 1713,
"gene_symbol": "CDAN1",
"hgvs_c": "n.*1190C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494699.1",
"strand": false,
"transcript": "ENST00000643434.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2277,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XR_931757.3",
"gene_hgnc_id": 1713,
"gene_symbol": "CDAN1",
"hgvs_c": "n.2027C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_931757.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3901,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000643434.1",
"gene_hgnc_id": 1713,
"gene_symbol": "CDAN1",
"hgvs_c": "n.*1190C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494699.1",
"strand": false,
"transcript": "ENST00000643434.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs80338695",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 1713,
"gene_symbol": "CDAN1",
"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": 2.847,
"pos": 42730760,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.39,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_138477.4"
}
]
}