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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: 9-83000291-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=83000291&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 83000291,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152573.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"hgvs_c": "c.1601A>G",
"hgvs_p": "p.Lys534Arg",
"transcript": "NM_152573.4",
"protein_id": "NP_689786.2",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 740,
"cds_start": 1601,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1876,
"cdna_end": null,
"cdna_length": 5585,
"mane_select": "ENST00000376447.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152573.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"hgvs_c": "c.1601A>G",
"hgvs_p": "p.Lys534Arg",
"transcript": "ENST00000376447.4",
"protein_id": "ENSP00000365630.3",
"transcript_support_level": 1,
"aa_start": 534,
"aa_end": null,
"aa_length": 740,
"cds_start": 1601,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1876,
"cdna_end": null,
"cdna_length": 5585,
"mane_select": "NM_152573.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376447.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"hgvs_c": "c.1601A>G",
"hgvs_p": "p.Lys534Arg",
"transcript": "ENST00000928035.1",
"protein_id": "ENSP00000598094.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 735,
"cds_start": 1601,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 1989,
"cdna_end": null,
"cdna_length": 5681,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928035.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Lys511Arg",
"transcript": "ENST00000873431.1",
"protein_id": "ENSP00000543490.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 717,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 5563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873431.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"hgvs_c": "c.1523A>G",
"hgvs_p": "p.Lys508Arg",
"transcript": "ENST00000873434.1",
"protein_id": "ENSP00000543493.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 714,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 2457,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873434.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"hgvs_c": "c.1454A>G",
"hgvs_p": "p.Lys485Arg",
"transcript": "ENST00000873432.1",
"protein_id": "ENSP00000543491.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 691,
"cds_start": 1454,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1739,
"cdna_end": null,
"cdna_length": 5448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873432.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"hgvs_c": "c.1385A>G",
"hgvs_p": "p.Lys462Arg",
"transcript": "ENST00000873433.1",
"protein_id": "ENSP00000543492.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 668,
"cds_start": 1385,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1660,
"cdna_end": null,
"cdna_length": 5369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873433.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"hgvs_c": "c.1532A>G",
"hgvs_p": "p.Lys511Arg",
"transcript": "XM_005251730.5",
"protein_id": "XP_005251787.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 717,
"cds_start": 1532,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 5516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251730.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"hgvs_c": "c.1214A>G",
"hgvs_p": "p.Lys405Arg",
"transcript": "XM_005251731.5",
"protein_id": "XP_005251788.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 611,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 2348,
"cdna_end": null,
"cdna_length": 6057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251731.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"hgvs_c": "c.1145A>G",
"hgvs_p": "p.Lys382Arg",
"transcript": "XM_047422826.1",
"protein_id": "XP_047278782.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 588,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 2279,
"cdna_end": null,
"cdna_length": 5988,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422826.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"hgvs_c": "c.1052A>G",
"hgvs_p": "p.Lys351Arg",
"transcript": "XM_047422827.1",
"protein_id": "XP_047278783.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 557,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 5068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422827.1"
}
],
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"dbsnp": "rs748326357",
"frequency_reference_population": 0.000006157113,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000615711,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08815550804138184,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
"alphamissense_score": 0.0675,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.13,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152573.4",
"gene_symbol": "RASEF",
"hgnc_id": 26464,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1601A>G",
"hgvs_p": "p.Lys534Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}