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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: 9-37801221-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=37801221&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 37801221,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024345.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF10",
"gene_hgnc_id": 23686,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Pro119Ser",
"transcript": "NM_024345.5",
"protein_id": "NP_077321.3",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 559,
"cds_start": 355,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 7906,
"mane_select": "ENST00000377724.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024345.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF10",
"gene_hgnc_id": 23686,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Pro119Ser",
"transcript": "ENST00000377724.8",
"protein_id": "ENSP00000366953.3",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 559,
"cds_start": 355,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 7906,
"mane_select": "NM_024345.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377724.8"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCAF10",
"gene_hgnc_id": 23686,
"hgvs_c": "c.20+574C>T",
"hgvs_p": null,
"transcript": "ENST00000242323.8",
"protein_id": "ENSP00000242323.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 386,
"cds_start": null,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000242323.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255872",
"gene_hgnc_id": null,
"hgvs_c": "n.*761-17158G>A",
"hgvs_p": null,
"transcript": "ENST00000540557.1",
"protein_id": "ENSP00000457548.1",
"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": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000540557.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF10",
"gene_hgnc_id": 23686,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Pro119Ser",
"transcript": "ENST00000878419.1",
"protein_id": "ENSP00000548478.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 568,
"cds_start": 355,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 3627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878419.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF10",
"gene_hgnc_id": 23686,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Pro119Ser",
"transcript": "ENST00000878418.1",
"protein_id": "ENSP00000548477.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 521,
"cds_start": 355,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 3491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878418.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF10",
"gene_hgnc_id": 23686,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Pro119Ser",
"transcript": "ENST00000878417.1",
"protein_id": "ENSP00000548476.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 493,
"cds_start": 355,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 4685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878417.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF10",
"gene_hgnc_id": 23686,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Pro119Ser",
"transcript": "ENST00000878420.1",
"protein_id": "ENSP00000548479.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 492,
"cds_start": 355,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878420.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF10",
"gene_hgnc_id": 23686,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Pro119Ser",
"transcript": "XM_005251577.5",
"protein_id": "XP_005251634.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 522,
"cds_start": 355,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 7795,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251577.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF10",
"gene_hgnc_id": 23686,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Pro119Ser",
"transcript": "XM_005251578.5",
"protein_id": "XP_005251635.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 493,
"cds_start": 355,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 7708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251578.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF10",
"gene_hgnc_id": 23686,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Pro119Ser",
"transcript": "XM_017015128.2",
"protein_id": "XP_016870617.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 456,
"cds_start": 355,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 7597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015128.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF10",
"gene_hgnc_id": 23686,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Pro119Ser",
"transcript": "XM_047423864.1",
"protein_id": "XP_047279820.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 447,
"cds_start": 355,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 1554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423864.1"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCAF10",
"gene_hgnc_id": 23686,
"hgvs_c": "c.20+574C>T",
"hgvs_p": null,
"transcript": "NM_001286810.2",
"protein_id": "NP_001273739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 386,
"cds_start": null,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7391,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286810.2"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCAF10",
"gene_hgnc_id": 23686,
"hgvs_c": "c.20+574C>T",
"hgvs_p": null,
"transcript": "XM_047423865.1",
"protein_id": "XP_047279821.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423865.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCAF10",
"gene_hgnc_id": 23686,
"hgvs_c": "c.20+574C>T",
"hgvs_p": null,
"transcript": "XM_047423866.1",
"protein_id": "XP_047279822.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": null,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423866.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EXOSC3",
"gene_hgnc_id": 17944,
"hgvs_c": "n.85+132G>A",
"hgvs_p": null,
"transcript": "ENST00000482614.5",
"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": 462,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000482614.5"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EXOSC3",
"gene_hgnc_id": 17944,
"hgvs_c": "n.-70-17158G>A",
"hgvs_p": null,
"transcript": "ENST00000678095.1",
"protein_id": "ENSP00000503205.1",
"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": 3540,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678095.1"
}
],
"gene_symbol": "DCAF10",
"gene_hgnc_id": 23686,
"dbsnp": null,
"frequency_reference_population": 7.0636435e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.06364e-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": 0.1532307267189026,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.055,
"revel_prediction": "Benign",
"alphamissense_score": 0.0734,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.07,
"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_024345.5",
"gene_symbol": "DCAF10",
"hgnc_id": 23686,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Pro119Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000540557.1",
"gene_symbol": "ENSG00000255872",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*761-17158G>A",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000678095.1",
"gene_symbol": "EXOSC3",
"hgnc_id": 17944,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.-70-17158G>A",
"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
}