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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: 6-89387347-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=89387347&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 89387347,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_021244.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRAGD",
"gene_hgnc_id": 19903,
"hgvs_c": "c.392A>G",
"hgvs_p": "p.Tyr131Cys",
"transcript": "NM_021244.5",
"protein_id": "NP_067067.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 400,
"cds_start": 392,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 4923,
"mane_select": "ENST00000369415.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021244.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRAGD",
"gene_hgnc_id": 19903,
"hgvs_c": "c.392A>G",
"hgvs_p": "p.Tyr131Cys",
"transcript": "ENST00000369415.9",
"protein_id": "ENSP00000358423.4",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 400,
"cds_start": 392,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 4923,
"mane_select": "NM_021244.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369415.9"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRAGD",
"gene_hgnc_id": 19903,
"hgvs_c": "c.392A>G",
"hgvs_p": "p.Tyr131Cys",
"transcript": "ENST00000886444.1",
"protein_id": "ENSP00000556503.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 400,
"cds_start": 392,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 1489,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886444.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRAGD",
"gene_hgnc_id": 19903,
"hgvs_c": "c.392A>G",
"hgvs_p": "p.Tyr131Cys",
"transcript": "ENST00000936138.1",
"protein_id": "ENSP00000606197.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 400,
"cds_start": 392,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 4432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936138.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRAGD",
"gene_hgnc_id": 19903,
"hgvs_c": "c.392A>G",
"hgvs_p": "p.Tyr131Cys",
"transcript": "ENST00000886443.1",
"protein_id": "ENSP00000556502.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 295,
"cds_start": 392,
"cds_end": null,
"cds_length": 888,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 4213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886443.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RRAGD",
"gene_hgnc_id": 19903,
"hgvs_c": "c.-9-6980A>G",
"hgvs_p": null,
"transcript": "ENST00000359203.3",
"protein_id": "ENSP00000352131.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": null,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4042,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359203.3"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RRAGD",
"gene_hgnc_id": 19903,
"hgvs_c": "c.149-19140A>G",
"hgvs_p": null,
"transcript": "ENST00000936139.1",
"protein_id": "ENSP00000606198.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": null,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936139.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RRAGD",
"gene_hgnc_id": 19903,
"hgvs_c": "n.416A>G",
"hgvs_p": null,
"transcript": "ENST00000492783.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 892,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000492783.1"
}
],
"gene_symbol": "RRAGD",
"gene_hgnc_id": 19903,
"dbsnp": "rs773461136",
"frequency_reference_population": 0.000019153314,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000191533,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5114395618438721,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.405,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1505,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.949,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_021244.5",
"gene_symbol": "RRAGD",
"hgnc_id": 19903,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.392A>G",
"hgvs_p": "p.Tyr131Cys"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}