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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: 6-11198581-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=11198581&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 11198581,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000379446.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD9",
"gene_hgnc_id": 7733,
"hgvs_c": "c.*2400C>T",
"hgvs_p": null,
"transcript": "ENST00000379433.5",
"protein_id": "ENSP00000368745.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": -4,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NEDD9",
"gene_hgnc_id": 7733,
"hgvs_c": "c.460-4889C>T",
"hgvs_p": null,
"transcript": "NM_006403.4",
"protein_id": "NP_006394.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 834,
"cds_start": -4,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4522,
"mane_select": "ENST00000379446.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NEDD9",
"gene_hgnc_id": 7733,
"hgvs_c": "c.460-4889C>T",
"hgvs_p": null,
"transcript": "ENST00000379446.10",
"protein_id": "ENSP00000368759.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 834,
"cds_start": -4,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4522,
"mane_select": "NM_006403.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NEDD9",
"gene_hgnc_id": 7733,
"hgvs_c": "n.*572+1690C>T",
"hgvs_p": null,
"transcript": "ENST00000448183.6",
"protein_id": "ENSP00000395237.2",
"transcript_support_level": 1,
"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": 4934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD9",
"gene_hgnc_id": 7733,
"hgvs_c": "c.*2400C>T",
"hgvs_p": null,
"transcript": "NM_182966.4",
"protein_id": "NP_892011.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": -4,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NEDD9",
"gene_hgnc_id": 7733,
"hgvs_c": "c.460-4889C>T",
"hgvs_p": null,
"transcript": "NM_001142393.2",
"protein_id": "NP_001135865.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 834,
"cds_start": -4,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NEDD9",
"gene_hgnc_id": 7733,
"hgvs_c": "c.460-4889C>T",
"hgvs_p": null,
"transcript": "ENST00000504387.5",
"protein_id": "ENSP00000422871.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 834,
"cds_start": -4,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NEDD9",
"gene_hgnc_id": 7733,
"hgvs_c": "c.13-4889C>T",
"hgvs_p": null,
"transcript": "NM_001271033.2",
"protein_id": "NP_001257962.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 685,
"cds_start": -4,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NEDD9",
"gene_hgnc_id": 7733,
"hgvs_c": "c.13-4889C>T",
"hgvs_p": null,
"transcript": "ENST00000620854.4",
"protein_id": "ENSP00000478563.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 685,
"cds_start": -4,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000247925",
"gene_hgnc_id": null,
"hgvs_c": "n.176-8880G>A",
"hgvs_p": null,
"transcript": "ENST00000500636.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NEDD9",
"gene_hgnc_id": 7733,
"hgvs_c": "n.1066+1690C>T",
"hgvs_p": null,
"transcript": "NR_073131.1",
"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": 4976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NEDD9",
"gene_hgnc_id": 7733,
"dbsnp": "rs11759513",
"frequency_reference_population": 0.2685693,
"hom_count_reference_population": 6717,
"allele_count_reference_population": 40851,
"gnomad_exomes_af": 0.28125,
"gnomad_genomes_af": 0.268567,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 40842,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 6716,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.4,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000379446.10",
"gene_symbol": "NEDD9",
"hgnc_id": 7733,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.460-4889C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000500636.2",
"gene_symbol": "ENSG00000247925",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.176-8880G>A",
"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
}