← 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: 17-48862296-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=48862296&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 48862296,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000258947.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.1165C>T",
"hgvs_p": "p.Pro389Ser",
"transcript": "NM_005831.5",
"protein_id": "NP_005822.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 446,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 3635,
"mane_select": "ENST00000258947.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.1165C>T",
"hgvs_p": "p.Pro389Ser",
"transcript": "ENST00000258947.8",
"protein_id": "ENSP00000258947.3",
"transcript_support_level": 1,
"aa_start": 389,
"aa_end": null,
"aa_length": 446,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 3635,
"mane_select": "NM_005831.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.1237C>T",
"hgvs_p": "p.Pro413Ser",
"transcript": "NM_001261390.2",
"protein_id": "NP_001248319.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 470,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 3707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.1237C>T",
"hgvs_p": "p.Pro413Ser",
"transcript": "ENST00000448105.7",
"protein_id": "ENSP00000398523.2",
"transcript_support_level": 2,
"aa_start": 413,
"aa_end": null,
"aa_length": 470,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 6691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.1228C>T",
"hgvs_p": "p.Pro410Ser",
"transcript": "NM_001261391.2",
"protein_id": "NP_001248320.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 467,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 3698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.1228C>T",
"hgvs_p": "p.Pro410Ser",
"transcript": "ENST00000509507.5",
"protein_id": "ENSP00000424352.1",
"transcript_support_level": 2,
"aa_start": 410,
"aa_end": null,
"aa_length": 467,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.1039C>T",
"hgvs_p": "p.Pro347Ser",
"transcript": "NM_001261393.2",
"protein_id": "NP_001248322.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 404,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 3509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.1039C>T",
"hgvs_p": "p.Pro347Ser",
"transcript": "ENST00000416445.6",
"protein_id": "ENSP00000406974.2",
"transcript_support_level": 2,
"aa_start": 347,
"aa_end": null,
"aa_length": 404,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 1438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Pro317Ser",
"transcript": "NM_001261395.2",
"protein_id": "NP_001248324.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 374,
"cds_start": 949,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 3445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Pro317Ser",
"transcript": "ENST00000508679.5",
"protein_id": "ENSP00000423437.1",
"transcript_support_level": 2,
"aa_start": 317,
"aa_end": null,
"aa_length": 374,
"cds_start": 949,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 1396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Pro317Ser",
"transcript": "XM_047435099.1",
"protein_id": "XP_047291055.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 374,
"cds_start": 949,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Pro317Ser",
"transcript": "XM_047435100.1",
"protein_id": "XP_047291056.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 374,
"cds_start": 949,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Pro56Pro",
"transcript": "ENST00000507306.1",
"protein_id": "ENSP00000424083.1",
"transcript_support_level": 3,
"aa_start": 56,
"aa_end": null,
"aa_length": 128,
"cds_start": 168,
"cds_end": null,
"cds_length": 387,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "n.*150C>T",
"hgvs_p": null,
"transcript": "ENST00000509784.1",
"protein_id": "ENSP00000429963.1",
"transcript_support_level": 4,
"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": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "n.*150C>T",
"hgvs_p": null,
"transcript": "ENST00000509784.1",
"protein_id": "ENSP00000429963.1",
"transcript_support_level": 4,
"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": 578,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293025",
"gene_hgnc_id": null,
"hgvs_c": "n.226+16968G>A",
"hgvs_p": null,
"transcript": "ENST00000817118.1",
"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": 457,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000293025",
"gene_hgnc_id": null,
"hgvs_c": "n.214+16968G>A",
"hgvs_p": null,
"transcript": "ENST00000817119.1",
"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": 1002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"dbsnp": "rs10278",
"frequency_reference_population": 6.979867e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.97987e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09039080142974854,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.039,
"revel_prediction": "Benign",
"alphamissense_score": 0.0798,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.023,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000258947.8",
"gene_symbol": "CALCOCO2",
"hgnc_id": 29912,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1165C>T",
"hgvs_p": "p.Pro389Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000817118.1",
"gene_symbol": "ENSG00000293025",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.226+16968G>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
}