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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: 5-128330554-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=128330554&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 128330554,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000262464.9",
"consequences": [
{
"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": 65,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "FBN2",
"gene_hgnc_id": 3604,
"hgvs_c": "c.4345+19G>A",
"hgvs_p": null,
"transcript": "NM_001999.4",
"protein_id": "NP_001990.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2912,
"cds_start": -4,
"cds_end": null,
"cds_length": 8739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10927,
"mane_select": "ENST00000262464.9",
"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": 65,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "FBN2",
"gene_hgnc_id": 3604,
"hgvs_c": "c.4345+19G>A",
"hgvs_p": null,
"transcript": "ENST00000262464.9",
"protein_id": "ENSP00000262464.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2912,
"cds_start": -4,
"cds_end": null,
"cds_length": 8739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10927,
"mane_select": "NM_001999.4",
"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": 33,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "FBN2",
"gene_hgnc_id": 3604,
"hgvs_c": "c.4246+19G>A",
"hgvs_p": null,
"transcript": "ENST00000508989.5",
"protein_id": "ENSP00000425596.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1473,
"cds_start": -4,
"cds_end": null,
"cds_length": 4422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4987,
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FBN2",
"gene_hgnc_id": 3604,
"hgvs_c": "n.1132+19G>A",
"hgvs_p": null,
"transcript": "ENST00000507835.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1884,
"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": 38,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FBN2",
"gene_hgnc_id": 3604,
"hgvs_c": "n.1129+19G>A",
"hgvs_p": null,
"transcript": "ENST00000703783.1",
"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": 4773,
"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": 27,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FBN2",
"gene_hgnc_id": 3604,
"hgvs_c": "n.1210+19G>A",
"hgvs_p": null,
"transcript": "ENST00000703785.1",
"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": 3434,
"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": 64,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "FBN2",
"gene_hgnc_id": 3604,
"hgvs_c": "c.4192+19G>A",
"hgvs_p": null,
"transcript": "XM_017009228.3",
"protein_id": "XP_016864717.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2861,
"cds_start": -4,
"cds_end": null,
"cds_length": 8586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FBN2",
"gene_hgnc_id": 3604,
"dbsnp": "rs886038503",
"frequency_reference_population": 0.0000068425848,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000684258,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"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": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.192,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000262464.9",
"gene_symbol": "FBN2",
"hgnc_id": 3604,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4345+19G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Congenital contractural arachnodactyly,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|Congenital contractural arachnodactyly",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}