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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: 18-53402823-T-TAGGGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=53402823&ref=T&alt=TAGGGA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 53402823,
"ref": "T",
"alt": "TAGGGA",
"effect": "frameshift_variant",
"transcript": "NM_005215.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "GS?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCC",
"gene_hgnc_id": 2701,
"hgvs_c": "c.2873_2877dupGGAAG",
"hgvs_p": "p.Pro960fs",
"transcript": "NM_005215.4",
"protein_id": "NP_005206.2",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1447,
"cds_start": 2878,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000442544.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005215.4"
},
{
"aa_ref": "P",
"aa_alt": "GS?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCC",
"gene_hgnc_id": 2701,
"hgvs_c": "c.2873_2877dupGGAAG",
"hgvs_p": "p.Pro960fs",
"transcript": "ENST00000442544.7",
"protein_id": "ENSP00000389140.2",
"transcript_support_level": 1,
"aa_start": 960,
"aa_end": null,
"aa_length": 1447,
"cds_start": 2878,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005215.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442544.7"
},
{
"aa_ref": "P",
"aa_alt": "GS?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCC",
"gene_hgnc_id": 2701,
"hgvs_c": "c.1778_1782dupGGAAG",
"hgvs_p": "p.Pro595fs",
"transcript": "ENST00000581580.5",
"protein_id": "ENSP00000464582.1",
"transcript_support_level": 1,
"aa_start": 595,
"aa_end": null,
"aa_length": 1076,
"cds_start": 1783,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581580.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCC",
"gene_hgnc_id": 2701,
"hgvs_c": "n.*123_*127dupGGAAG",
"hgvs_p": null,
"transcript": "ENST00000304775.12",
"protein_id": "ENSP00000304146.8",
"transcript_support_level": 1,
"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": "ENST00000304775.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCC",
"gene_hgnc_id": 2701,
"hgvs_c": "n.*123_*127dupGGAAG",
"hgvs_p": null,
"transcript": "ENST00000304775.12",
"protein_id": "ENSP00000304146.8",
"transcript_support_level": 1,
"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": "ENST00000304775.12"
},
{
"aa_ref": "P",
"aa_alt": "GS?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCC",
"gene_hgnc_id": 2701,
"hgvs_c": "c.287_291dupGGAAG",
"hgvs_p": "p.Pro98fs",
"transcript": "ENST00000579941.1",
"protein_id": "ENSP00000464292.1",
"transcript_support_level": 5,
"aa_start": 98,
"aa_end": null,
"aa_length": 207,
"cds_start": 292,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579941.1"
},
{
"aa_ref": "P",
"aa_alt": "GS?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCC",
"gene_hgnc_id": 2701,
"hgvs_c": "c.2873_2877dupGGAAG",
"hgvs_p": "p.Pro960fs",
"transcript": "XM_017025568.2",
"protein_id": "XP_016881057.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1445,
"cds_start": 2878,
"cds_end": null,
"cds_length": 4338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025568.2"
},
{
"aa_ref": "P",
"aa_alt": "GS?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCC",
"gene_hgnc_id": 2701,
"hgvs_c": "c.2813_2817dupGGAAG",
"hgvs_p": "p.Pro940fs",
"transcript": "XM_017025569.2",
"protein_id": "XP_016881058.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1427,
"cds_start": 2818,
"cds_end": null,
"cds_length": 4284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025569.2"
},
{
"aa_ref": "P",
"aa_alt": "GS?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCC",
"gene_hgnc_id": 2701,
"hgvs_c": "c.2813_2817dupGGAAG",
"hgvs_p": "p.Pro940fs",
"transcript": "XM_047437311.1",
"protein_id": "XP_047293267.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1425,
"cds_start": 2818,
"cds_end": null,
"cds_length": 4278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437311.1"
},
{
"aa_ref": "P",
"aa_alt": "GS?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCC",
"gene_hgnc_id": 2701,
"hgvs_c": "c.1838_1842dupGGAAG",
"hgvs_p": "p.Pro615fs",
"transcript": "XM_011525844.3",
"protein_id": "XP_011524146.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1843,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525844.3"
}
],
"gene_symbol": "DCC",
"gene_hgnc_id": 2701,
"dbsnp": "rs797044555",
"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": 1.563,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_005215.4",
"gene_symbol": "DCC",
"hgnc_id": 2701,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "Unknown,AD,AR",
"hgvs_c": "c.2873_2877dupGGAAG",
"hgvs_p": "p.Pro960fs"
}
],
"clinvar_disease": "Mirror movements 1",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Mirror movements 1",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}