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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: 17-59131332-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=59131332&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 59131332,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_182620.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKA2",
"gene_hgnc_id": 28006,
"hgvs_c": "c.69A>T",
"hgvs_p": "p.Gln23His",
"transcript": "NM_182620.4",
"protein_id": "NP_872426.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 121,
"cds_start": 69,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000330137.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182620.4"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKA2",
"gene_hgnc_id": 28006,
"hgvs_c": "c.69A>T",
"hgvs_p": "p.Gln23His",
"transcript": "ENST00000330137.12",
"protein_id": "ENSP00000333433.7",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 121,
"cds_start": 69,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182620.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330137.12"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKA2",
"gene_hgnc_id": 28006,
"hgvs_c": "c.63A>T",
"hgvs_p": "p.Gln21His",
"transcript": "ENST00000916133.1",
"protein_id": "ENSP00000586192.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 119,
"cds_start": 63,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916133.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKA2",
"gene_hgnc_id": 28006,
"hgvs_c": "c.69A>T",
"hgvs_p": "p.Gln23His",
"transcript": "NM_001330399.2",
"protein_id": "NP_001317328.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 109,
"cds_start": 69,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330399.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKA2",
"gene_hgnc_id": 28006,
"hgvs_c": "c.69A>T",
"hgvs_p": "p.Gln23His",
"transcript": "ENST00000583380.5",
"protein_id": "ENSP00000462574.1",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 109,
"cds_start": 69,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583380.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"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": "SKA2",
"gene_hgnc_id": 28006,
"hgvs_c": "c.164A>T",
"hgvs_p": "p.Asn55Ile",
"transcript": "NM_001100595.2",
"protein_id": "NP_001094065.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 75,
"cds_start": 164,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100595.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"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": "SKA2",
"gene_hgnc_id": 28006,
"hgvs_c": "c.164A>T",
"hgvs_p": "p.Asn55Ile",
"transcript": "ENST00000437036.6",
"protein_id": "ENSP00000411231.2",
"transcript_support_level": 2,
"aa_start": 55,
"aa_end": null,
"aa_length": 75,
"cds_start": 164,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437036.6"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"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": "SKA2",
"gene_hgnc_id": 28006,
"hgvs_c": "c.39A>T",
"hgvs_p": "p.Gln13His",
"transcript": "ENST00000584089.1",
"protein_id": "ENSP00000463315.1",
"transcript_support_level": 4,
"aa_start": 13,
"aa_end": null,
"aa_length": 65,
"cds_start": 39,
"cds_end": null,
"cds_length": 199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584089.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"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": "SKA2",
"gene_hgnc_id": 28006,
"hgvs_c": "c.69A>T",
"hgvs_p": "p.Gln23His",
"transcript": "ENST00000581068.5",
"protein_id": "ENSP00000462220.1",
"transcript_support_level": 2,
"aa_start": 23,
"aa_end": null,
"aa_length": 62,
"cds_start": 69,
"cds_end": null,
"cds_length": 189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581068.5"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SKA2",
"gene_hgnc_id": 28006,
"hgvs_c": "c.34-11837A>T",
"hgvs_p": null,
"transcript": "ENST00000578105.1",
"protein_id": "ENSP00000462918.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": null,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578105.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SKA2",
"gene_hgnc_id": 28006,
"hgvs_c": "c.129-18987A>T",
"hgvs_p": null,
"transcript": "ENST00000580541.1",
"protein_id": "ENSP00000462197.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 46,
"cds_start": null,
"cds_end": null,
"cds_length": 141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580541.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKA2",
"gene_hgnc_id": 28006,
"hgvs_c": "n.69A>T",
"hgvs_p": null,
"transcript": "ENST00000578519.5",
"protein_id": "ENSP00000464558.1",
"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": "ENST00000578519.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SKA2",
"gene_hgnc_id": 28006,
"hgvs_c": "n.164A>T",
"hgvs_p": null,
"transcript": "ENST00000583976.1",
"protein_id": "ENSP00000463167.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000583976.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SKA2",
"gene_hgnc_id": 28006,
"hgvs_c": "n.131-18987A>T",
"hgvs_p": null,
"transcript": "ENST00000583927.1",
"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": "pseudogene",
"feature": "ENST00000583927.1"
}
],
"gene_symbol": "SKA2",
"gene_hgnc_id": 28006,
"dbsnp": "rs374720606",
"frequency_reference_population": 0.0000025304507,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000210001,
"gnomad_genomes_af": 0.00000657099,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5040714740753174,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5299999713897705,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.19,
"revel_prediction": "Benign",
"alphamissense_score": 0.4135,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.014,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.53,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_182620.4",
"gene_symbol": "SKA2",
"hgnc_id": 28006,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.69A>T",
"hgvs_p": "p.Gln23His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}