← 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: 6-43670917-G-GAGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43670917&ref=G&alt=GAGA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43670917,
"ref": "G",
"alt": "GAGA",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000372163.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "KN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPH9",
"gene_hgnc_id": 21057,
"hgvs_c": "c.804_806dupGAA",
"hgvs_p": "p.Lys268dup",
"transcript": "NM_152732.5",
"protein_id": "NP_689945.2",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 276,
"cds_start": 807,
"cds_end": null,
"cds_length": 831,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": "ENST00000372163.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "KN",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPH9",
"gene_hgnc_id": 21057,
"hgvs_c": "c.804_806dupGAA",
"hgvs_p": "p.Lys268dup",
"transcript": "ENST00000372163.5",
"protein_id": "ENSP00000361236.4",
"transcript_support_level": 1,
"aa_start": 269,
"aa_end": null,
"aa_length": 276,
"cds_start": 807,
"cds_end": null,
"cds_length": 831,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": "NM_152732.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "EH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPH9",
"gene_hgnc_id": 21057,
"hgvs_c": "c.901_903dupGAA",
"hgvs_p": "p.Glu301dup",
"transcript": "NM_001424119.1",
"protein_id": "NP_001411048.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 321,
"cds_start": 904,
"cds_end": null,
"cds_length": 966,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "EH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPH9",
"gene_hgnc_id": 21057,
"hgvs_c": "c.856_858dupGAA",
"hgvs_p": "p.Glu286dup",
"transcript": "NM_001193341.2",
"protein_id": "NP_001180270.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 306,
"cds_start": 859,
"cds_end": null,
"cds_length": 921,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 2597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "EH",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPH9",
"gene_hgnc_id": 21057,
"hgvs_c": "c.856_858dupGAA",
"hgvs_p": "p.Glu286dup",
"transcript": "ENST00000372165.8",
"protein_id": "ENSP00000361238.4",
"transcript_support_level": 2,
"aa_start": 287,
"aa_end": null,
"aa_length": 306,
"cds_start": 859,
"cds_end": null,
"cds_length": 921,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "KN",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPH9",
"gene_hgnc_id": 21057,
"hgvs_c": "c.759_761dupGAA",
"hgvs_p": "p.Lys253dup",
"transcript": "NM_001424120.1",
"protein_id": "NP_001411049.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 261,
"cds_start": 762,
"cds_end": null,
"cds_length": 786,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPH9",
"gene_hgnc_id": 21057,
"hgvs_c": "n.701_703dupGAA",
"hgvs_p": null,
"transcript": "NR_187613.1",
"protein_id": null,
"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": 2379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSPH9",
"gene_hgnc_id": 21057,
"hgvs_c": "n.818_820dupGAA",
"hgvs_p": null,
"transcript": "NR_187614.1",
"protein_id": null,
"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": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RSPH9",
"gene_hgnc_id": 21057,
"dbsnp": "rs397515340",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"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": 3.001,
"phylop100way_prediction": "Benign",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000372163.5",
"gene_symbol": "RSPH9",
"hgnc_id": 21057,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.804_806dupGAA",
"hgvs_p": "p.Lys268dup"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}