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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: 10-21882295-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=21882295&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 21882295,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022365.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC1",
"gene_hgnc_id": 20090,
"hgvs_c": "c.965C>G",
"hgvs_p": "p.Thr322Arg",
"transcript": "NM_022365.4",
"protein_id": "NP_071760.2",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 554,
"cds_start": 965,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": "ENST00000376980.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022365.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC1",
"gene_hgnc_id": 20090,
"hgvs_c": "c.965C>G",
"hgvs_p": "p.Thr322Arg",
"transcript": "ENST00000376980.8",
"protein_id": "ENSP00000366179.3",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 554,
"cds_start": 965,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": "NM_022365.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376980.8"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC1",
"gene_hgnc_id": 20090,
"hgvs_c": "c.965C>G",
"hgvs_p": "p.Thr322Arg",
"transcript": "ENST00000883425.1",
"protein_id": "ENSP00000553484.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 564,
"cds_start": 965,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 2124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883425.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC1",
"gene_hgnc_id": 20090,
"hgvs_c": "c.911C>G",
"hgvs_p": "p.Thr304Arg",
"transcript": "ENST00000883429.1",
"protein_id": "ENSP00000553488.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 536,
"cds_start": 911,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883429.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC1",
"gene_hgnc_id": 20090,
"hgvs_c": "c.965C>G",
"hgvs_p": "p.Thr322Arg",
"transcript": "ENST00000963964.1",
"protein_id": "ENSP00000634023.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 530,
"cds_start": 965,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 2027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963964.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC1",
"gene_hgnc_id": 20090,
"hgvs_c": "c.869C>G",
"hgvs_p": "p.Thr290Arg",
"transcript": "ENST00000963963.1",
"protein_id": "ENSP00000634022.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 522,
"cds_start": 869,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1168,
"cdna_end": null,
"cdna_length": 2006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963963.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC1",
"gene_hgnc_id": 20090,
"hgvs_c": "c.965C>G",
"hgvs_p": "p.Thr322Arg",
"transcript": "ENST00000883424.1",
"protein_id": "ENSP00000553483.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 514,
"cds_start": 965,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 1999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883424.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC1",
"gene_hgnc_id": 20090,
"hgvs_c": "c.752C>G",
"hgvs_p": "p.Thr251Arg",
"transcript": "ENST00000963965.1",
"protein_id": "ENSP00000634024.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 483,
"cds_start": 752,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963965.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC1",
"gene_hgnc_id": 20090,
"hgvs_c": "c.560C>G",
"hgvs_p": "p.Thr187Arg",
"transcript": "ENST00000883426.1",
"protein_id": "ENSP00000553485.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 419,
"cds_start": 560,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883426.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC1",
"gene_hgnc_id": 20090,
"hgvs_c": "c.458C>G",
"hgvs_p": "p.Thr153Arg",
"transcript": "ENST00000883428.1",
"protein_id": "ENSP00000553487.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 385,
"cds_start": 458,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 1583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883428.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC1",
"gene_hgnc_id": 20090,
"hgvs_c": "c.965C>G",
"hgvs_p": "p.Thr322Arg",
"transcript": "XM_011519614.4",
"protein_id": "XP_011517916.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 394,
"cds_start": 965,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 1602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519614.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC1",
"gene_hgnc_id": 20090,
"hgvs_c": "c.965C>G",
"hgvs_p": "p.Thr322Arg",
"transcript": "XM_017016536.3",
"protein_id": "XP_016872025.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 361,
"cds_start": 965,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 3707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016536.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJC1",
"gene_hgnc_id": 20090,
"hgvs_c": "c.965C>G",
"hgvs_p": "p.Thr322Arg",
"transcript": "XM_047425628.1",
"protein_id": "XP_047281584.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 361,
"cds_start": 965,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 1810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425628.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNAJC1",
"gene_hgnc_id": 20090,
"hgvs_c": "c.324+46745C>G",
"hgvs_p": null,
"transcript": "ENST00000883427.1",
"protein_id": "ENSP00000553486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": null,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883427.1"
}
],
"gene_symbol": "DNAJC1",
"gene_hgnc_id": 20090,
"dbsnp": "rs201496867",
"frequency_reference_population": 0.0000065703885,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657039,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16522935032844543,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.126,
"revel_prediction": "Benign",
"alphamissense_score": 0.1154,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.583,
"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": "NM_022365.4",
"gene_symbol": "DNAJC1",
"hgnc_id": 20090,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.965C>G",
"hgvs_p": "p.Thr322Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}