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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: 19-11394430-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11394430&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11394430,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001161616.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702Gln",
"transcript": "NM_001035223.4",
"protein_id": "NP_001030300.3",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 710,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": "ENST00000380456.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001035223.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702Gln",
"transcript": "ENST00000380456.8",
"protein_id": "ENSP00000369823.3",
"transcript_support_level": 1,
"aa_start": 702,
"aa_end": null,
"aa_length": 710,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": "NM_001035223.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380456.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.2123G>A",
"hgvs_p": "p.Arg708Gln",
"transcript": "ENST00000393423.7",
"protein_id": "ENSP00000377075.3",
"transcript_support_level": 1,
"aa_start": 708,
"aa_end": null,
"aa_length": 716,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 2173,
"cdna_end": null,
"cdna_length": 2278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393423.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.2144G>A",
"hgvs_p": "p.Arg715Gln",
"transcript": "ENST00000920283.1",
"protein_id": "ENSP00000590342.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 723,
"cds_start": 2144,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2183,
"cdna_end": null,
"cdna_length": 2553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920283.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.2123G>A",
"hgvs_p": "p.Arg708Gln",
"transcript": "NM_001161616.3",
"protein_id": "NP_001155088.2",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 716,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 2529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161616.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702Gln",
"transcript": "ENST00000853010.1",
"protein_id": "ENSP00000523069.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 710,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 2354,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853010.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.2090G>A",
"hgvs_p": "p.Arg697Gln",
"transcript": "ENST00000920282.1",
"protein_id": "ENSP00000590341.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 705,
"cds_start": 2090,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 2154,
"cdna_end": null,
"cdna_length": 2527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920282.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.2072G>A",
"hgvs_p": "p.Arg691Gln",
"transcript": "ENST00000853012.1",
"protein_id": "ENSP00000523071.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 699,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2108,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853012.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.2057G>A",
"hgvs_p": "p.Arg686Gln",
"transcript": "ENST00000971806.1",
"protein_id": "ENSP00000641865.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 694,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 2083,
"cdna_end": null,
"cdna_length": 2457,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971806.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.2051G>A",
"hgvs_p": "p.Arg684Gln",
"transcript": "ENST00000920284.1",
"protein_id": "ENSP00000590343.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 692,
"cds_start": 2051,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2087,
"cdna_end": null,
"cdna_length": 2457,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920284.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.2036G>A",
"hgvs_p": "p.Arg679Gln",
"transcript": "ENST00000853013.1",
"protein_id": "ENSP00000523072.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 687,
"cds_start": 2036,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 2059,
"cdna_end": null,
"cdna_length": 2424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853013.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.2018G>A",
"hgvs_p": "p.Arg673Gln",
"transcript": "ENST00000853011.1",
"protein_id": "ENSP00000523070.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 681,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 2092,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853011.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.2018G>A",
"hgvs_p": "p.Arg673Gln",
"transcript": "ENST00000971805.1",
"protein_id": "ENSP00000641864.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 681,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 2047,
"cdna_end": null,
"cdna_length": 2420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971805.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.2009G>A",
"hgvs_p": "p.Arg670Gln",
"transcript": "ENST00000920286.1",
"protein_id": "ENSP00000590345.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 678,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 2042,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920286.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "c.1967G>A",
"hgvs_p": "p.Arg656Gln",
"transcript": "ENST00000920285.1",
"protein_id": "ENSP00000590344.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 664,
"cds_start": 1967,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 2003,
"cdna_end": null,
"cdna_length": 2373,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920285.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "n.1775G>A",
"hgvs_p": null,
"transcript": "ENST00000566153.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000566153.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "n.381G>A",
"hgvs_p": null,
"transcript": "ENST00000568628.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 747,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000568628.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "n.*1248+2814G>A",
"hgvs_p": null,
"transcript": "ENST00000562663.5",
"protein_id": "ENSP00000454678.1",
"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": 2303,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000562663.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"hgvs_c": "n.*1655+2814G>A",
"hgvs_p": null,
"transcript": "ENST00000563726.5",
"protein_id": "ENSP00000455922.1",
"transcript_support_level": 2,
"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": 2366,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000563726.5"
}
],
"gene_symbol": "RGL3",
"gene_hgnc_id": 30282,
"dbsnp": "rs142089258",
"frequency_reference_population": 0.00007188663,
"hom_count_reference_population": 0,
"allele_count_reference_population": 116,
"gnomad_exomes_af": 0.000077303,
"gnomad_genomes_af": 0.0000197535,
"gnomad_exomes_ac": 113,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06826695799827576,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.008,
"revel_prediction": "Benign",
"alphamissense_score": 0.067,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.588,
"phylop100way_prediction": "Benign",
"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": 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_001161616.3",
"gene_symbol": "RGL3",
"hgnc_id": 30282,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2123G>A",
"hgvs_p": "p.Arg708Gln"
}
],
"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
}