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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: 19-5785501-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=5785501&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 5785501,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020175.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS3L",
"gene_hgnc_id": 26920,
"hgvs_c": "c.1762G>T",
"hgvs_p": "p.Val588Leu",
"transcript": "NM_020175.3",
"protein_id": "NP_064560.2",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 650,
"cds_start": 1762,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000309061.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020175.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS3L",
"gene_hgnc_id": 26920,
"hgvs_c": "c.1762G>T",
"hgvs_p": "p.Val588Leu",
"transcript": "ENST00000309061.12",
"protein_id": "ENSP00000311977.5",
"transcript_support_level": 1,
"aa_start": 588,
"aa_end": null,
"aa_length": 650,
"cds_start": 1762,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020175.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309061.12"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS3L",
"gene_hgnc_id": 26920,
"hgvs_c": "c.1036G>T",
"hgvs_p": "p.Val346Leu",
"transcript": "ENST00000320699.12",
"protein_id": "ENSP00000315558.7",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 408,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320699.12"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267157",
"gene_hgnc_id": null,
"hgvs_c": "c.28G>T",
"hgvs_p": "p.Val10Leu",
"transcript": "ENST00000586012.1",
"protein_id": "ENSP00000466514.1",
"transcript_support_level": 3,
"aa_start": 10,
"aa_end": null,
"aa_length": 77,
"cds_start": 28,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586012.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS3L",
"gene_hgnc_id": 26920,
"hgvs_c": "c.1801G>T",
"hgvs_p": "p.Val601Leu",
"transcript": "ENST00000931382.1",
"protein_id": "ENSP00000601441.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 663,
"cds_start": 1801,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931382.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS3L",
"gene_hgnc_id": 26920,
"hgvs_c": "c.1780G>T",
"hgvs_p": "p.Val594Leu",
"transcript": "ENST00000931383.1",
"protein_id": "ENSP00000601442.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 656,
"cds_start": 1780,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931383.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS3L",
"gene_hgnc_id": 26920,
"hgvs_c": "c.1738G>T",
"hgvs_p": "p.Val580Leu",
"transcript": "ENST00000880234.1",
"protein_id": "ENSP00000550293.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 642,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880234.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS3L",
"gene_hgnc_id": 26920,
"hgvs_c": "c.1726G>T",
"hgvs_p": "p.Val576Leu",
"transcript": "ENST00000880235.1",
"protein_id": "ENSP00000550294.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 638,
"cds_start": 1726,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880235.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS3L",
"gene_hgnc_id": 26920,
"hgvs_c": "c.1720G>T",
"hgvs_p": "p.Val574Leu",
"transcript": "ENST00000958714.1",
"protein_id": "ENSP00000628773.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 636,
"cds_start": 1720,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958714.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS3L",
"gene_hgnc_id": 26920,
"hgvs_c": "c.1036G>T",
"hgvs_p": "p.Val346Leu",
"transcript": "NM_001161619.2",
"protein_id": "NP_001155091.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 408,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161619.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS3L",
"gene_hgnc_id": 26920,
"hgvs_c": "c.163G>T",
"hgvs_p": "p.Val55Leu",
"transcript": "ENST00000590343.1",
"protein_id": "ENSP00000466351.1",
"transcript_support_level": 2,
"aa_start": 55,
"aa_end": null,
"aa_length": 168,
"cds_start": 163,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590343.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS3L",
"gene_hgnc_id": 26920,
"hgvs_c": "c.1720G>T",
"hgvs_p": "p.Val574Leu",
"transcript": "XM_017027020.2",
"protein_id": "XP_016882509.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 636,
"cds_start": 1720,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027020.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS3L",
"gene_hgnc_id": 26920,
"hgvs_c": "n.2047G>T",
"hgvs_p": null,
"transcript": "ENST00000589085.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000589085.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS3L",
"gene_hgnc_id": 26920,
"hgvs_c": "n.408G>T",
"hgvs_p": null,
"transcript": "ENST00000589841.5",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000589841.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS3L",
"gene_hgnc_id": 26920,
"hgvs_c": "n.*207G>T",
"hgvs_p": null,
"transcript": "ENST00000591560.5",
"protein_id": "ENSP00000467987.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000591560.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS3L",
"gene_hgnc_id": 26920,
"hgvs_c": "n.*333G>T",
"hgvs_p": null,
"transcript": "ENST00000592468.5",
"protein_id": "ENSP00000468075.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000592468.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS3L",
"gene_hgnc_id": 26920,
"hgvs_c": "n.664G>T",
"hgvs_p": null,
"transcript": "ENST00000592673.1",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000592673.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS3L",
"gene_hgnc_id": 26920,
"hgvs_c": "n.*207G>T",
"hgvs_p": null,
"transcript": "ENST00000591560.5",
"protein_id": "ENSP00000467987.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000591560.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUS3L",
"gene_hgnc_id": 26920,
"hgvs_c": "n.*333G>T",
"hgvs_p": null,
"transcript": "ENST00000592468.5",
"protein_id": "ENSP00000468075.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000592468.5"
}
],
"gene_symbol": "DUS3L",
"gene_hgnc_id": 26920,
"dbsnp": "rs559204251",
"frequency_reference_population": 7.078253e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.07825e-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": 0.3753538429737091,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.18,
"revel_prediction": "Benign",
"alphamissense_score": 0.3272,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.697,
"phylop100way_prediction": "Benign",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020175.3",
"gene_symbol": "DUS3L",
"hgnc_id": 26920,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1762G>T",
"hgvs_p": "p.Val588Leu"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000586012.1",
"gene_symbol": "ENSG00000267157",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.28G>T",
"hgvs_p": "p.Val10Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}