← Back to variant description
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: 3-9867275-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9867275&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9867275,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000336832.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.229C>T",
"hgvs_p": "p.Leu77Phe",
"transcript": "ENST00000443115.1",
"protein_id": "ENSP00000411356.1",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 133,
"cds_start": 229,
"cds_end": null,
"cds_length": 402,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.576C>T",
"hgvs_p": "p.Leu192Leu",
"transcript": "NM_001321142.2",
"protein_id": "NP_001308071.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 238,
"cds_start": 576,
"cds_end": null,
"cds_length": 717,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 1305,
"mane_select": "ENST00000336832.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.576C>T",
"hgvs_p": "p.Leu192Leu",
"transcript": "ENST00000336832.7",
"protein_id": "ENSP00000338642.2",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 238,
"cds_start": 576,
"cds_end": null,
"cds_length": 717,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 1305,
"mane_select": "NM_001321142.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.615C>T",
"hgvs_p": "p.Leu205Leu",
"transcript": "ENST00000383817.5",
"protein_id": "ENSP00000373328.2",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 251,
"cds_start": 615,
"cds_end": null,
"cds_length": 756,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 1199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Leu118Leu",
"transcript": "ENST00000455015.6",
"protein_id": "ENSP00000392975.1",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 164,
"cds_start": 354,
"cds_end": null,
"cds_length": 495,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 1153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.615C>T",
"hgvs_p": "p.Leu205Leu",
"transcript": "NM_001199623.2",
"protein_id": "NP_001186552.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 251,
"cds_start": 615,
"cds_end": null,
"cds_length": 756,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "NM_001199551.2",
"protein_id": "NP_001186480.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 248,
"cds_start": 606,
"cds_end": null,
"cds_length": 747,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "ENST00000430427.6",
"protein_id": "ENSP00000408631.1",
"transcript_support_level": 3,
"aa_start": 202,
"aa_end": null,
"aa_length": 248,
"cds_start": 606,
"cds_end": null,
"cds_length": 747,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 1214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Leu202Leu",
"transcript": "ENST00000618572.4",
"protein_id": "ENSP00000483641.1",
"transcript_support_level": 5,
"aa_start": 202,
"aa_end": null,
"aa_length": 248,
"cds_start": 606,
"cds_end": null,
"cds_length": 747,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.576C>T",
"hgvs_p": "p.Leu192Leu",
"transcript": "NM_001199552.2",
"protein_id": "NP_001186481.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 238,
"cds_start": 576,
"cds_end": null,
"cds_length": 717,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 1192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.576C>T",
"hgvs_p": "p.Leu192Leu",
"transcript": "NM_001378491.1",
"protein_id": "NP_001365420.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 238,
"cds_start": 576,
"cds_end": null,
"cds_length": 717,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 1231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.576C>T",
"hgvs_p": "p.Leu192Leu",
"transcript": "NM_022094.3",
"protein_id": "NP_071377.2",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 238,
"cds_start": 576,
"cds_end": null,
"cds_length": 717,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 1281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.576C>T",
"hgvs_p": "p.Leu192Leu",
"transcript": "ENST00000675828.1",
"protein_id": "ENSP00000502377.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 238,
"cds_start": 576,
"cds_end": null,
"cds_length": 717,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 1192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.576C>T",
"hgvs_p": "p.Leu192Leu",
"transcript": "ENST00000679265.1",
"protein_id": "ENSP00000504614.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 238,
"cds_start": 576,
"cds_end": null,
"cds_length": 717,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 1231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Leu118Leu",
"transcript": "NM_001321143.2",
"protein_id": "NP_001308072.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 164,
"cds_start": 354,
"cds_end": null,
"cds_length": 495,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 1151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Leu118Leu",
"transcript": "NM_001321144.2",
"protein_id": "NP_001308073.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 164,
"cds_start": 354,
"cds_end": null,
"cds_length": 495,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 1038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Leu118Leu",
"transcript": "ENST00000423850.5",
"protein_id": "ENSP00000400649.1",
"transcript_support_level": 2,
"aa_start": 118,
"aa_end": null,
"aa_length": 164,
"cds_start": 354,
"cds_end": null,
"cds_length": 495,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 1036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.576C>T",
"hgvs_p": "p.Leu192Leu",
"transcript": "XM_047448685.1",
"protein_id": "XP_047304641.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 238,
"cds_start": 576,
"cds_end": null,
"cds_length": 717,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 1258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Leu118Leu",
"transcript": "XM_047448686.1",
"protein_id": "XP_047304642.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 164,
"cds_start": 354,
"cds_end": null,
"cds_length": 495,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 1046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308530",
"gene_hgnc_id": null,
"hgvs_c": "n.321+2564G>A",
"hgvs_p": null,
"transcript": "ENST00000834810.1",
"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": 698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308530",
"gene_hgnc_id": null,
"hgvs_c": "n.223+2564G>A",
"hgvs_p": null,
"transcript": "ENST00000834811.1",
"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": 484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CIDEC",
"gene_hgnc_id": 24229,
"dbsnp": "rs1132703",
"frequency_reference_population": 0.00007186935,
"hom_count_reference_population": 0,
"allele_count_reference_population": 116,
"gnomad_exomes_af": 0.0000759346,
"gnomad_genomes_af": 0.0000328394,
"gnomad_exomes_ac": 111,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18295276165008545,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.169,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.331,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000336832.7",
"gene_symbol": "CIDEC",
"hgnc_id": 24229,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.576C>T",
"hgvs_p": "p.Leu192Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000834810.1",
"gene_symbol": "ENSG00000308530",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.321+2564G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}