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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: 10-84247707-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=84247707&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 84247707,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000652092.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGR",
"gene_hgnc_id": 9990,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ser66Arg",
"transcript": "NM_001012720.2",
"protein_id": "NP_001012738.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 291,
"cds_start": 196,
"cds_end": null,
"cds_length": 876,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 2235,
"mane_select": "ENST00000652092.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGR",
"gene_hgnc_id": 9990,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ser66Arg",
"transcript": "ENST00000652092.2",
"protein_id": "ENSP00000498299.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 291,
"cds_start": 196,
"cds_end": null,
"cds_length": 876,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 2235,
"mane_select": "NM_001012720.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGR",
"gene_hgnc_id": 9990,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ser66Arg",
"transcript": "ENST00000359452.9",
"protein_id": "ENSP00000352427.4",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 295,
"cds_start": 196,
"cds_end": null,
"cds_length": 888,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGR",
"gene_hgnc_id": 9990,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ser66Arg",
"transcript": "ENST00000358110.7",
"protein_id": "ENSP00000350823.5",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 253,
"cds_start": 196,
"cds_end": null,
"cds_length": 762,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 1076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGR",
"gene_hgnc_id": 9990,
"hgvs_c": "n.151A>C",
"hgvs_p": null,
"transcript": "ENST00000372092.3",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGR",
"gene_hgnc_id": 9990,
"hgvs_c": "n.*267A>C",
"hgvs_p": null,
"transcript": "ENST00000478727.6",
"protein_id": "ENSP00000498966.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGR",
"gene_hgnc_id": 9990,
"hgvs_c": "n.*267A>C",
"hgvs_p": null,
"transcript": "ENST00000478727.6",
"protein_id": "ENSP00000498966.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGR",
"gene_hgnc_id": 9990,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ser66Arg",
"transcript": "ENST00000652122.1",
"protein_id": "ENSP00000498917.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 310,
"cds_start": 196,
"cds_end": null,
"cds_length": 933,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 2139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGR",
"gene_hgnc_id": 9990,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ser66Arg",
"transcript": "NM_002921.4",
"protein_id": "NP_002912.2",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 295,
"cds_start": 196,
"cds_end": null,
"cds_length": 888,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGR",
"gene_hgnc_id": 9990,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ser66Arg",
"transcript": "NM_001012722.2",
"protein_id": "NP_001012740.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 253,
"cds_start": 196,
"cds_end": null,
"cds_length": 762,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 2121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGR",
"gene_hgnc_id": 9990,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ser66Arg",
"transcript": "ENST00000483744.6",
"protein_id": "ENSP00000498992.1",
"transcript_support_level": 3,
"aa_start": 66,
"aa_end": null,
"aa_length": 212,
"cds_start": 196,
"cds_end": null,
"cds_length": 639,
"cdna_start": 196,
"cdna_end": null,
"cdna_length": 1075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGR",
"gene_hgnc_id": 9990,
"hgvs_c": "n.234A>C",
"hgvs_p": null,
"transcript": "ENST00000469446.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGR",
"gene_hgnc_id": 9990,
"hgvs_c": "n.148A>C",
"hgvs_p": null,
"transcript": "ENST00000483771.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGR",
"gene_hgnc_id": 9990,
"hgvs_c": "n.146A>C",
"hgvs_p": null,
"transcript": "ENST00000650774.1",
"protein_id": "ENSP00000498908.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGR",
"gene_hgnc_id": 9990,
"hgvs_c": "n.196A>C",
"hgvs_p": null,
"transcript": "ENST00000651155.1",
"protein_id": "ENSP00000499193.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGR",
"gene_hgnc_id": 9990,
"hgvs_c": "n.*124A>C",
"hgvs_p": null,
"transcript": "ENST00000652310.1",
"protein_id": "ENSP00000498927.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGR",
"gene_hgnc_id": 9990,
"hgvs_c": "c.-342A>C",
"hgvs_p": null,
"transcript": "ENST00000651237.1",
"protein_id": "ENSP00000498404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": -4,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGR",
"gene_hgnc_id": 9990,
"hgvs_c": "c.-342A>C",
"hgvs_p": null,
"transcript": "ENST00000652073.1",
"protein_id": "ENSP00000498800.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": -4,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGR",
"gene_hgnc_id": 9990,
"hgvs_c": "c.-342A>C",
"hgvs_p": null,
"transcript": "ENST00000650682.1",
"protein_id": "ENSP00000498223.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 74,
"cds_start": -4,
"cds_end": null,
"cds_length": 225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGR",
"gene_hgnc_id": 9990,
"hgvs_c": "n.*124A>C",
"hgvs_p": null,
"transcript": "ENST00000652310.1",
"protein_id": "ENSP00000498927.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RGR",
"gene_hgnc_id": 9990,
"hgvs_c": "n.80-1215A>C",
"hgvs_p": null,
"transcript": "ENST00000483660.5",
"protein_id": "ENSP00000499053.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RGR",
"gene_hgnc_id": 9990,
"dbsnp": "rs104894187",
"frequency_reference_population": 0.000015488777,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.000015049,
"gnomad_genomes_af": 0.0000197132,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7862179279327393,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.331,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9809,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.279,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000652092.2",
"gene_symbol": "RGR",
"hgnc_id": 9990,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,SD,AD",
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Ser66Arg"
}
],
"clinvar_disease": "Cone dystrophy,Retinal dystrophy,Retinitis pigmentosa 44,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:6",
"phenotype_combined": "Retinitis pigmentosa 44|Cone dystrophy|not provided|Retinal dystrophy",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}