← 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: 3-170361071-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=170361071&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 170361071,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005414.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIL",
"gene_hgnc_id": 10897,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Pro247Leu",
"transcript": "NM_005414.5",
"protein_id": "NP_005405.2",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 684,
"cds_start": 740,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000259119.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005414.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIL",
"gene_hgnc_id": 10897,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Pro247Leu",
"transcript": "ENST00000259119.9",
"protein_id": "ENSP00000259119.4",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 684,
"cds_start": 740,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005414.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259119.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "SKIL",
"gene_hgnc_id": 10897,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Pro247Leu",
"transcript": "ENST00000458537.7",
"protein_id": "ENSP00000415243.3",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 684,
"cds_start": 740,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458537.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIL",
"gene_hgnc_id": 10897,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Pro247Leu",
"transcript": "ENST00000465590.2",
"protein_id": "ENSP00000516712.1",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 684,
"cds_start": 740,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465590.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "SKIL",
"gene_hgnc_id": 10897,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Pro247Leu",
"transcript": "ENST00000413427.6",
"protein_id": "ENSP00000400193.2",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 638,
"cds_start": 740,
"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": "ENST00000413427.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "SKIL",
"gene_hgnc_id": 10897,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Pro247Leu",
"transcript": "NM_001248008.1",
"protein_id": "NP_001234937.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 684,
"cds_start": 740,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001248008.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIL",
"gene_hgnc_id": 10897,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Pro247Leu",
"transcript": "ENST00000928164.1",
"protein_id": "ENSP00000598223.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 684,
"cds_start": 740,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928164.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIL",
"gene_hgnc_id": 10897,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Pro247Leu",
"transcript": "ENST00000928165.1",
"protein_id": "ENSP00000598224.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 684,
"cds_start": 740,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928165.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIL",
"gene_hgnc_id": 10897,
"hgvs_c": "c.680C>T",
"hgvs_p": "p.Pro227Leu",
"transcript": "NM_001145098.3",
"protein_id": "NP_001138570.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 664,
"cds_start": 680,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145098.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIL",
"gene_hgnc_id": 10897,
"hgvs_c": "c.680C>T",
"hgvs_p": "p.Pro227Leu",
"transcript": "ENST00000426052.6",
"protein_id": "ENSP00000406520.2",
"transcript_support_level": 2,
"aa_start": 227,
"aa_end": null,
"aa_length": 664,
"cds_start": 680,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426052.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "SKIL",
"gene_hgnc_id": 10897,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Pro247Leu",
"transcript": "NM_001145097.2",
"protein_id": "NP_001138569.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 638,
"cds_start": 740,
"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": "NM_001145097.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIL",
"gene_hgnc_id": 10897,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Pro247Leu",
"transcript": "ENST00000909215.1",
"protein_id": "ENSP00000579274.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 638,
"cds_start": 740,
"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": "ENST00000909215.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIL",
"gene_hgnc_id": 10897,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Pro247Leu",
"transcript": "XM_005247721.2",
"protein_id": "XP_005247778.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 684,
"cds_start": 740,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247721.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIL",
"gene_hgnc_id": 10897,
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Pro247Leu",
"transcript": "XM_006713735.2",
"protein_id": "XP_006713798.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 684,
"cds_start": 740,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713735.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKIL",
"gene_hgnc_id": 10897,
"hgvs_c": "n.-143C>T",
"hgvs_p": null,
"transcript": "ENST00000470571.1",
"protein_id": "ENSP00000418237.1",
"transcript_support_level": 3,
"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": "ENST00000470571.1"
}
],
"gene_symbol": "SKIL",
"gene_hgnc_id": 10897,
"dbsnp": "rs144342348",
"frequency_reference_population": 0.00010346182,
"hom_count_reference_population": 0,
"allele_count_reference_population": 167,
"gnomad_exomes_af": 0.000107395,
"gnomad_genomes_af": 0.0000656909,
"gnomad_exomes_ac": 157,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2786857485771179,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.586,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1039,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.467,
"phylop100way_prediction": "Uncertain_significance",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_005414.5",
"gene_symbol": "SKIL",
"hgnc_id": 10897,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Pro247Leu"
}
],
"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
}