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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: 7-107045008-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=107045008&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 107045008,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002736.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2B",
"gene_hgnc_id": 9392,
"hgvs_c": "c.101A>G",
"hgvs_p": "p.Gln34Arg",
"transcript": "NM_002736.3",
"protein_id": "NP_002727.2",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 418,
"cds_start": 101,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265717.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002736.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2B",
"gene_hgnc_id": 9392,
"hgvs_c": "c.101A>G",
"hgvs_p": "p.Gln34Arg",
"transcript": "ENST00000265717.5",
"protein_id": "ENSP00000265717.4",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 418,
"cds_start": 101,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002736.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265717.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2B",
"gene_hgnc_id": 9392,
"hgvs_c": "c.101A>G",
"hgvs_p": "p.Gln34Arg",
"transcript": "ENST00000854598.1",
"protein_id": "ENSP00000524657.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 446,
"cds_start": 101,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854598.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2B",
"gene_hgnc_id": 9392,
"hgvs_c": "c.101A>G",
"hgvs_p": "p.Gln34Arg",
"transcript": "ENST00000913925.1",
"protein_id": "ENSP00000583984.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 416,
"cds_start": 101,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913925.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2B",
"gene_hgnc_id": 9392,
"hgvs_c": "c.101A>G",
"hgvs_p": "p.Gln34Arg",
"transcript": "ENST00000913926.1",
"protein_id": "ENSP00000583985.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 406,
"cds_start": 101,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913926.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2B",
"gene_hgnc_id": 9392,
"hgvs_c": "c.101A>G",
"hgvs_p": "p.Gln34Arg",
"transcript": "ENST00000854597.1",
"protein_id": "ENSP00000524656.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 390,
"cds_start": 101,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854597.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2B",
"gene_hgnc_id": 9392,
"hgvs_c": "c.101A>G",
"hgvs_p": "p.Gln34Arg",
"transcript": "ENST00000965652.1",
"protein_id": "ENSP00000635711.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 384,
"cds_start": 101,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965652.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2B",
"gene_hgnc_id": 9392,
"hgvs_c": "c.101A>G",
"hgvs_p": "p.Gln34Arg",
"transcript": "ENST00000913927.1",
"protein_id": "ENSP00000583986.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 303,
"cds_start": 101,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913927.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2B",
"gene_hgnc_id": 9392,
"hgvs_c": "n.99A>G",
"hgvs_p": null,
"transcript": "ENST00000706580.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000706580.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR2B",
"gene_hgnc_id": 9392,
"hgvs_c": "c.-140A>G",
"hgvs_p": null,
"transcript": "ENST00000706581.1",
"protein_id": "ENSP00000516463.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706581.1"
}
],
"gene_symbol": "PRKAR2B",
"gene_hgnc_id": 9392,
"dbsnp": "rs752054562",
"frequency_reference_population": 0.0000058125943,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000501318,
"gnomad_genomes_af": 0.0000131543,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.35634320974349976,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.321,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1029,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.81,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002736.3",
"gene_symbol": "PRKAR2B",
"hgnc_id": 9392,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.101A>G",
"hgvs_p": "p.Gln34Arg"
}
],
"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
}