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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: 7-100124614-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100124614&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100124614,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152755.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY4",
"gene_hgnc_id": 28631,
"hgvs_c": "c.566T>C",
"hgvs_p": "p.Leu189Pro",
"transcript": "NM_152755.2",
"protein_id": "NP_689968.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 248,
"cds_start": 566,
"cds_end": null,
"cds_length": 747,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 1478,
"mane_select": "ENST00000262932.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152755.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY4",
"gene_hgnc_id": 28631,
"hgvs_c": "c.566T>C",
"hgvs_p": "p.Leu189Pro",
"transcript": "ENST00000262932.5",
"protein_id": "ENSP00000262932.3",
"transcript_support_level": 1,
"aa_start": 189,
"aa_end": null,
"aa_length": 248,
"cds_start": 566,
"cds_end": null,
"cds_length": 747,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 1478,
"mane_select": "NM_152755.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262932.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY4",
"gene_hgnc_id": 28631,
"hgvs_c": "c.689T>C",
"hgvs_p": "p.Leu230Pro",
"transcript": "ENST00000919349.1",
"protein_id": "ENSP00000589408.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 289,
"cds_start": 689,
"cds_end": null,
"cds_length": 870,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 1558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919349.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY4",
"gene_hgnc_id": 28631,
"hgvs_c": "c.644T>C",
"hgvs_p": "p.Leu215Pro",
"transcript": "ENST00000907887.1",
"protein_id": "ENSP00000577946.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 274,
"cds_start": 644,
"cds_end": null,
"cds_length": 825,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 1511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907887.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY4",
"gene_hgnc_id": 28631,
"hgvs_c": "c.566T>C",
"hgvs_p": "p.Leu189Pro",
"transcript": "ENST00000970782.1",
"protein_id": "ENSP00000640841.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 250,
"cds_start": 566,
"cds_end": null,
"cds_length": 753,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970782.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY4",
"gene_hgnc_id": 28631,
"hgvs_c": "c.521T>C",
"hgvs_p": "p.Leu174Pro",
"transcript": "ENST00000970780.1",
"protein_id": "ENSP00000640839.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 233,
"cds_start": 521,
"cds_end": null,
"cds_length": 702,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 1426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970780.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY4",
"gene_hgnc_id": 28631,
"hgvs_c": "c.443T>C",
"hgvs_p": "p.Leu148Pro",
"transcript": "ENST00000907886.1",
"protein_id": "ENSP00000577945.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 207,
"cds_start": 443,
"cds_end": null,
"cds_length": 624,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 1323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907886.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CNPY4",
"gene_hgnc_id": 28631,
"hgvs_c": "c.466-122T>C",
"hgvs_p": null,
"transcript": "ENST00000970781.1",
"protein_id": "ENSP00000640840.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 205,
"cds_start": null,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1334,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970781.1"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.-60+2528A>G",
"hgvs_p": null,
"transcript": "XM_024446896.2",
"protein_id": "XP_024302664.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 677,
"cds_start": null,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446896.2"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.-60+2393A>G",
"hgvs_p": null,
"transcript": "XM_047420779.1",
"protein_id": "XP_047276735.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 677,
"cds_start": null,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420779.1"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.-60+2393A>G",
"hgvs_p": null,
"transcript": "XM_047420780.1",
"protein_id": "XP_047276736.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 667,
"cds_start": null,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420780.1"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TAF6",
"gene_hgnc_id": 11540,
"hgvs_c": "c.-60+2528A>G",
"hgvs_p": null,
"transcript": "XM_047420781.1",
"protein_id": "XP_047276737.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 667,
"cds_start": null,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420781.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY4",
"gene_hgnc_id": 28631,
"hgvs_c": "n.*174T>C",
"hgvs_p": null,
"transcript": "ENST00000462193.2",
"protein_id": "ENSP00000488873.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1003,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000462193.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY4",
"gene_hgnc_id": 28631,
"hgvs_c": "n.655T>C",
"hgvs_p": null,
"transcript": "ENST00000480692.4",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1024,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000480692.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNPY4",
"gene_hgnc_id": 28631,
"hgvs_c": "n.*174T>C",
"hgvs_p": null,
"transcript": "ENST00000462193.2",
"protein_id": "ENSP00000488873.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1003,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000462193.2"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000242798",
"gene_hgnc_id": null,
"hgvs_c": "n.133+2393A>G",
"hgvs_p": null,
"transcript": "ENST00000494221.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000494221.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000242798",
"gene_hgnc_id": null,
"hgvs_c": "n.151-1276A>G",
"hgvs_p": null,
"transcript": "ENST00000764642.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 339,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000764642.1"
}
],
"gene_symbol": "CNPY4",
"gene_hgnc_id": 28631,
"dbsnp": "rs1231405852",
"frequency_reference_population": 0.0000020524496,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205245,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9393728375434875,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.521,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9536,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.961,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_152755.2",
"gene_symbol": "CNPY4",
"hgnc_id": 28631,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.566T>C",
"hgvs_p": "p.Leu189Pro"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000494221.1",
"gene_symbol": "ENSG00000242798",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.133+2393A>G",
"hgvs_p": null
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "XM_024446896.2",
"gene_symbol": "TAF6",
"hgnc_id": 11540,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-60+2528A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}