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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: 9-92474742-CTCATCATCATCATCATCATCATCA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=92474742&ref=CTCATCATCATCATCATCATCATCA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 92474742,
"ref": "CTCATCATCATCATCATCATCATCA",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000375544.7",
"consequences": [
{
"aa_ref": "DDDDDDDDE",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPN",
"gene_hgnc_id": 14872,
"hgvs_c": "c.132_155delTGATGATGATGATGATGATGATGA",
"hgvs_p": "p.Asp44_Asp51del",
"transcript": "ENST00000375544.7",
"protein_id": "ENSP00000364694.3",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 380,
"cds_start": 132,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 2470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CENPP",
"gene_hgnc_id": 32933,
"hgvs_c": "c.564+94904_564+94927delATCATCATCATCATCATCATCATC",
"hgvs_p": null,
"transcript": "NM_001012267.3",
"protein_id": "NP_001012267.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8293,
"mane_select": "ENST00000375587.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CENPP",
"gene_hgnc_id": 32933,
"hgvs_c": "c.564+94904_564+94927delATCATCATCATCATCATCATCATC",
"hgvs_p": null,
"transcript": "ENST00000375587.8",
"protein_id": "ENSP00000364737.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8293,
"mane_select": "NM_001012267.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DDDDDDDDE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPN",
"gene_hgnc_id": 14872,
"hgvs_c": "c.132_155delTGATGATGATGATGATGATGATGA",
"hgvs_p": "p.Asp44_Asp51del",
"transcript": "NM_017680.6",
"protein_id": "NP_060150.4",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 380,
"cds_start": 132,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 2470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DDDDDDDDE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPN",
"gene_hgnc_id": 14872,
"hgvs_c": "c.132_155delTGATGATGATGATGATGATGATGA",
"hgvs_p": "p.Asp44_Asp51del",
"transcript": "NM_001193335.3",
"protein_id": "NP_001180264.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 243,
"cds_start": 132,
"cds_end": null,
"cds_length": 732,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 2237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DDDDDDDDE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPN",
"gene_hgnc_id": 14872,
"hgvs_c": "c.132_155delTGATGATGATGATGATGATGATGA",
"hgvs_p": "p.Asp44_Asp51del",
"transcript": "ENST00000375543.2",
"protein_id": "ENSP00000364693.1",
"transcript_support_level": 2,
"aa_start": 44,
"aa_end": null,
"aa_length": 243,
"cds_start": 132,
"cds_end": null,
"cds_length": 732,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DDDDDDDDE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPN",
"gene_hgnc_id": 14872,
"hgvs_c": "c.48_71delTGATGATGATGATGATGATGATGA",
"hgvs_p": "p.Asp16_Asp23del",
"transcript": "ENST00000651738.1",
"protein_id": "ENSP00000498419.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 123,
"cds_start": 48,
"cds_end": null,
"cds_length": 373,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASPN",
"gene_hgnc_id": 14872,
"hgvs_c": "n.132_155delTGATGATGATGATGATGATGATGA",
"hgvs_p": null,
"transcript": "ENST00000650794.1",
"protein_id": "ENSP00000499088.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "CENPP",
"gene_hgnc_id": 32933,
"hgvs_c": "c.228+94904_228+94927delATCATCATCATCATCATCATCATC",
"hgvs_p": null,
"transcript": "NM_001286969.1",
"protein_id": "NP_001273898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": -4,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CENPP",
"gene_hgnc_id": 32933,
"hgvs_c": "c.288+94904_288+94927delATCATCATCATCATCATCATCATC",
"hgvs_p": null,
"transcript": "XM_024447543.2",
"protein_id": "XP_024303311.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": -4,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "CENPP",
"gene_hgnc_id": 32933,
"hgvs_c": "c.565-19104_565-19081delATCATCATCATCATCATCATCATC",
"hgvs_p": null,
"transcript": "XM_011518689.2",
"protein_id": "XP_011516991.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": -4,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ASPN",
"gene_hgnc_id": 14872,
"dbsnp": "rs3078372",
"frequency_reference_population": 0.00008731735,
"hom_count_reference_population": 0,
"allele_count_reference_population": 134,
"gnomad_exomes_af": 0.0000915616,
"gnomad_genomes_af": 0.0000474293,
"gnomad_exomes_ac": 127,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 4.518,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000375544.7",
"gene_symbol": "ASPN",
"hgnc_id": 14872,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "",
"hgvs_c": "c.132_155delTGATGATGATGATGATGATGATGA",
"hgvs_p": "p.Asp44_Asp51del"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000375587.8",
"gene_symbol": "CENPP",
"hgnc_id": 32933,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.564+94904_564+94927delATCATCATCATCATCATCATCATC",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}