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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: 17-82093307-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82093307&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "FASN",
"hgnc_id": 3594,
"hgvs_c": "c.567T>C",
"hgvs_p": "p.Asn189Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_004104.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 859400,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.75,
"chr": "17",
"clinvar_classification": "Benign",
"clinvar_disease": "Epileptic encephalopathy,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.75,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2511,
"aa_ref": "N",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8464,
"cdna_start": 690,
"cds_end": null,
"cds_length": 7536,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_004104.5",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.567T>C",
"hgvs_p": "p.Asn189Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000306749.4",
"protein_coding": true,
"protein_id": "NP_004095.4",
"strand": false,
"transcript": "NM_004104.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2511,
"aa_ref": "N",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8464,
"cdna_start": 690,
"cds_end": null,
"cds_length": 7536,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000306749.4",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.567T>C",
"hgvs_p": "p.Asn189Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004104.5",
"protein_coding": true,
"protein_id": "ENSP00000304592.2",
"strand": false,
"transcript": "ENST00000306749.4",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2520,
"aa_ref": "N",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8488,
"cdna_start": 714,
"cds_end": null,
"cds_length": 7563,
"cds_start": 594,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000940344.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.594T>C",
"hgvs_p": "p.Asn198Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610403.1",
"strand": false,
"transcript": "ENST00000940344.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2519,
"aa_ref": "N",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8367,
"cdna_start": 689,
"cds_end": null,
"cds_length": 7560,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000940346.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.567T>C",
"hgvs_p": "p.Asn189Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610405.1",
"strand": false,
"transcript": "ENST00000940346.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2509,
"aa_ref": "N",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8407,
"cdna_start": 641,
"cds_end": null,
"cds_length": 7530,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000634990.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.567T>C",
"hgvs_p": "p.Asn189Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000488964.1",
"strand": false,
"transcript": "ENST00000634990.1",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2509,
"aa_ref": "N",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8457,
"cdna_start": 689,
"cds_end": null,
"cds_length": 7530,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000940341.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.567T>C",
"hgvs_p": "p.Asn189Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610400.1",
"strand": false,
"transcript": "ENST00000940341.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2507,
"aa_ref": "N",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8451,
"cdna_start": 677,
"cds_end": null,
"cds_length": 7524,
"cds_start": 555,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000940342.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.555T>C",
"hgvs_p": "p.Asn185Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610401.1",
"strand": false,
"transcript": "ENST00000940342.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2491,
"aa_ref": "N",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8403,
"cdna_start": 689,
"cds_end": null,
"cds_length": 7476,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000940343.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.567T>C",
"hgvs_p": "p.Asn189Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610402.1",
"strand": false,
"transcript": "ENST00000940343.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2448,
"aa_ref": "N",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8272,
"cdna_start": 687,
"cds_end": null,
"cds_length": 7347,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 42,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000940345.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.567T>C",
"hgvs_p": "p.Asn189Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610404.1",
"strand": false,
"transcript": "ENST00000940345.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2511,
"aa_ref": "N",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8459,
"cdna_start": 685,
"cds_end": null,
"cds_length": 7536,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 43,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011523538.3",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.567T>C",
"hgvs_p": "p.Asn189Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521840.1",
"strand": false,
"transcript": "XM_011523538.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2228309",
"effect": "synonymous_variant",
"frequency_reference_population": 0.5382938,
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"gnomad_exomes_ac": 782135,
"gnomad_exomes_af": 0.541507,
"gnomad_exomes_homalt": 218728,
"gnomad_genomes_ac": 77265,
"gnomad_genomes_af": 0.507788,
"gnomad_genomes_homalt": 20291,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 239019,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "Epileptic encephalopathy|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.699,
"pos": 82093307,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_004104.5"
}
]
}