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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: 9-82992952-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=82992952&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 82992952,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_152573.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"hgvs_c": "c.1994A>C",
"hgvs_p": "p.Glu665Ala",
"transcript": "NM_152573.4",
"protein_id": "NP_689786.2",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 740,
"cds_start": 1994,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376447.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152573.4"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"hgvs_c": "c.1994A>C",
"hgvs_p": "p.Glu665Ala",
"transcript": "ENST00000376447.4",
"protein_id": "ENSP00000365630.3",
"transcript_support_level": 1,
"aa_start": 665,
"aa_end": null,
"aa_length": 740,
"cds_start": 1994,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152573.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376447.4"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"hgvs_c": "c.1979A>C",
"hgvs_p": "p.Glu660Ala",
"transcript": "ENST00000928035.1",
"protein_id": "ENSP00000598094.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 735,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928035.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"hgvs_c": "c.1925A>C",
"hgvs_p": "p.Glu642Ala",
"transcript": "ENST00000873431.1",
"protein_id": "ENSP00000543490.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 717,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873431.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"hgvs_c": "c.1916A>C",
"hgvs_p": "p.Glu639Ala",
"transcript": "ENST00000873434.1",
"protein_id": "ENSP00000543493.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 714,
"cds_start": 1916,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873434.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"hgvs_c": "c.1847A>C",
"hgvs_p": "p.Glu616Ala",
"transcript": "ENST00000873432.1",
"protein_id": "ENSP00000543491.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 691,
"cds_start": 1847,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873432.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"hgvs_c": "c.1778A>C",
"hgvs_p": "p.Glu593Ala",
"transcript": "ENST00000873433.1",
"protein_id": "ENSP00000543492.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 668,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873433.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"hgvs_c": "c.1925A>C",
"hgvs_p": "p.Glu642Ala",
"transcript": "XM_005251730.5",
"protein_id": "XP_005251787.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 717,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251730.5"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"hgvs_c": "c.1607A>C",
"hgvs_p": "p.Glu536Ala",
"transcript": "XM_005251731.5",
"protein_id": "XP_005251788.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 611,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251731.5"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"hgvs_c": "c.1538A>C",
"hgvs_p": "p.Glu513Ala",
"transcript": "XM_047422826.1",
"protein_id": "XP_047278782.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 588,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422826.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"hgvs_c": "c.1445A>C",
"hgvs_p": "p.Glu482Ala",
"transcript": "XM_047422827.1",
"protein_id": "XP_047278783.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 557,
"cds_start": 1445,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422827.1"
}
],
"gene_symbol": "RASEF",
"gene_hgnc_id": 26464,
"dbsnp": "rs1053162513",
"frequency_reference_population": 0.000007436133,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000684139,
"gnomad_genomes_af": 0.0000131536,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23873752355575562,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.112,
"revel_prediction": "Benign",
"alphamissense_score": 0.0817,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.715,
"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.1994A>C",
"hgvs_p": "p.Glu665Ala"
}
],
"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
}