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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: 20-20412101-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=20412101&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 20412101,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020343.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.5543G>A",
"hgvs_p": "p.Arg1848His",
"transcript": "NM_020343.4",
"protein_id": "NP_065076.2",
"transcript_support_level": null,
"aa_start": 1848,
"aa_end": null,
"aa_length": 1873,
"cds_start": 5543,
"cds_end": null,
"cds_length": 5622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000202677.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020343.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.5543G>A",
"hgvs_p": "p.Arg1848His",
"transcript": "ENST00000202677.12",
"protein_id": "ENSP00000202677.6",
"transcript_support_level": 5,
"aa_start": 1848,
"aa_end": null,
"aa_length": 1873,
"cds_start": 5543,
"cds_end": null,
"cds_length": 5622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020343.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000202677.12"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.5504G>A",
"hgvs_p": "p.Arg1835His",
"transcript": "ENST00000909985.1",
"protein_id": "ENSP00000580044.1",
"transcript_support_level": null,
"aa_start": 1835,
"aa_end": null,
"aa_length": 1860,
"cds_start": 5504,
"cds_end": null,
"cds_length": 5583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909985.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.5405G>A",
"hgvs_p": "p.Arg1802His",
"transcript": "ENST00000934890.1",
"protein_id": "ENSP00000604949.1",
"transcript_support_level": null,
"aa_start": 1802,
"aa_end": null,
"aa_length": 1827,
"cds_start": 5405,
"cds_end": null,
"cds_length": 5484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934890.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.4991G>A",
"hgvs_p": "p.Arg1664His",
"transcript": "ENST00000430436.5",
"protein_id": "ENSP00000400085.1",
"transcript_support_level": 5,
"aa_start": 1664,
"aa_end": null,
"aa_length": 1739,
"cds_start": 4991,
"cds_end": null,
"cds_length": 5220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430436.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.5684G>A",
"hgvs_p": "p.Arg1895His",
"transcript": "XM_006723598.2",
"protein_id": "XP_006723661.1",
"transcript_support_level": null,
"aa_start": 1895,
"aa_end": null,
"aa_length": 1970,
"cds_start": 5684,
"cds_end": null,
"cds_length": 5913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723598.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.5543G>A",
"hgvs_p": "p.Arg1848His",
"transcript": "XM_005260768.3",
"protein_id": "XP_005260825.1",
"transcript_support_level": null,
"aa_start": 1848,
"aa_end": null,
"aa_length": 1923,
"cds_start": 5543,
"cds_end": null,
"cds_length": 5772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260768.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.5684G>A",
"hgvs_p": "p.Arg1895His",
"transcript": "XM_006723599.2",
"protein_id": "XP_006723662.1",
"transcript_support_level": null,
"aa_start": 1895,
"aa_end": null,
"aa_length": 1920,
"cds_start": 5684,
"cds_end": null,
"cds_length": 5763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723599.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.5198G>A",
"hgvs_p": "p.Arg1733His",
"transcript": "XM_011529310.3",
"protein_id": "XP_011527612.1",
"transcript_support_level": null,
"aa_start": 1733,
"aa_end": null,
"aa_length": 1808,
"cds_start": 5198,
"cds_end": null,
"cds_length": 5427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529310.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.3887G>A",
"hgvs_p": "p.Arg1296His",
"transcript": "XM_047440322.1",
"protein_id": "XP_047296278.1",
"transcript_support_level": null,
"aa_start": 1296,
"aa_end": null,
"aa_length": 1371,
"cds_start": 3887,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440322.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.3806G>A",
"hgvs_p": "p.Arg1269His",
"transcript": "XM_011529311.3",
"protein_id": "XP_011527613.2",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3806,
"cds_end": null,
"cds_length": 4035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529311.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.3746G>A",
"hgvs_p": "p.Arg1249His",
"transcript": "XM_047440323.1",
"protein_id": "XP_047296279.1",
"transcript_support_level": null,
"aa_start": 1249,
"aa_end": null,
"aa_length": 1324,
"cds_start": 3746,
"cds_end": null,
"cds_length": 3975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440323.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "c.3665G>A",
"hgvs_p": "p.Arg1222His",
"transcript": "XM_047440324.1",
"protein_id": "XP_047296280.1",
"transcript_support_level": null,
"aa_start": 1222,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3665,
"cds_end": null,
"cds_length": 3894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440324.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "n.5848G>A",
"hgvs_p": null,
"transcript": "XR_001754352.2",
"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": "pseudogene",
"feature": "XR_001754352.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "n.5848G>A",
"hgvs_p": null,
"transcript": "XR_007067470.1",
"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": "pseudogene",
"feature": "XR_007067470.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "n.5707G>A",
"hgvs_p": null,
"transcript": "XR_007067471.1",
"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": "pseudogene",
"feature": "XR_007067471.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"hgvs_c": "n.5848G>A",
"hgvs_p": null,
"transcript": "XR_937111.3",
"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": "pseudogene",
"feature": "XR_937111.3"
}
],
"gene_symbol": "RALGAPA2",
"gene_hgnc_id": 16207,
"dbsnp": "rs370762908",
"frequency_reference_population": 0.00004957207,
"hom_count_reference_population": 0,
"allele_count_reference_population": 80,
"gnomad_exomes_af": 0.0000424176,
"gnomad_genomes_af": 0.000118301,
"gnomad_exomes_ac": 62,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09693464636802673,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.359,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1744,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.157,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_020343.4",
"gene_symbol": "RALGAPA2",
"hgnc_id": 16207,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5543G>A",
"hgvs_p": "p.Arg1848His"
}
],
"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
}