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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: 20-20412138-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=20412138&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "RALGAPA2",
"hgnc_id": 16207,
"hgvs_c": "c.5506C>T",
"hgvs_p": "p.Arg1836*",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_020343.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.59,
"chr": "20",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5899999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1873,
"aa_ref": "R",
"aa_start": 1836,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9545,
"cdna_start": 5670,
"cds_end": null,
"cds_length": 5622,
"cds_start": 5506,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_020343.4",
"gene_hgnc_id": 16207,
"gene_symbol": "RALGAPA2",
"hgvs_c": "c.5506C>T",
"hgvs_p": "p.Arg1836*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000202677.12",
"protein_coding": true,
"protein_id": "NP_065076.2",
"strand": false,
"transcript": "NM_020343.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1873,
"aa_ref": "R",
"aa_start": 1836,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9545,
"cdna_start": 5670,
"cds_end": null,
"cds_length": 5622,
"cds_start": 5506,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000202677.12",
"gene_hgnc_id": 16207,
"gene_symbol": "RALGAPA2",
"hgvs_c": "c.5506C>T",
"hgvs_p": "p.Arg1836*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020343.4",
"protein_coding": true,
"protein_id": "ENSP00000202677.6",
"strand": false,
"transcript": "ENST00000202677.12",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1860,
"aa_ref": "R",
"aa_start": 1823,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6850,
"cdna_start": 5619,
"cds_end": null,
"cds_length": 5583,
"cds_start": 5467,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000909985.1",
"gene_hgnc_id": 16207,
"gene_symbol": "RALGAPA2",
"hgvs_c": "c.5467C>T",
"hgvs_p": "p.Arg1823*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580044.1",
"strand": false,
"transcript": "ENST00000909985.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1827,
"aa_ref": "R",
"aa_start": 1790,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9372,
"cdna_start": 5519,
"cds_end": null,
"cds_length": 5484,
"cds_start": 5368,
"consequences": [
"stop_gained"
],
"exon_count": 39,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000934890.1",
"gene_hgnc_id": 16207,
"gene_symbol": "RALGAPA2",
"hgvs_c": "c.5368C>T",
"hgvs_p": "p.Arg1790*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604949.1",
"strand": false,
"transcript": "ENST00000934890.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1739,
"aa_ref": "R",
"aa_start": 1652,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8769,
"cdna_start": 4956,
"cds_end": null,
"cds_length": 5220,
"cds_start": 4954,
"consequences": [
"stop_gained"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000430436.5",
"gene_hgnc_id": 16207,
"gene_symbol": "RALGAPA2",
"hgvs_c": "c.4954C>T",
"hgvs_p": "p.Arg1652*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400085.1",
"strand": false,
"transcript": "ENST00000430436.5",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1970,
"aa_ref": "R",
"aa_start": 1883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9646,
"cdna_start": 5811,
"cds_end": null,
"cds_length": 5913,
"cds_start": 5647,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "XM_006723598.2",
"gene_hgnc_id": 16207,
"gene_symbol": "RALGAPA2",
"hgvs_c": "c.5647C>T",
"hgvs_p": "p.Arg1883*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006723661.1",
"strand": false,
"transcript": "XM_006723598.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1923,
"aa_ref": "R",
"aa_start": 1836,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9505,
"cdna_start": 5670,
"cds_end": null,
"cds_length": 5772,
"cds_start": 5506,
"consequences": [
"stop_gained"
],
"exon_count": 39,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "XM_005260768.3",
"gene_hgnc_id": 16207,
"gene_symbol": "RALGAPA2",
"hgvs_c": "c.5506C>T",
"hgvs_p": "p.Arg1836*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005260825.1",
"strand": false,
"transcript": "XM_005260768.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1920,
"aa_ref": "R",
"aa_start": 1883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9686,
"cdna_start": 5811,
"cds_end": null,
"cds_length": 5763,
"cds_start": 5647,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "XM_006723599.2",
"gene_hgnc_id": 16207,
"gene_symbol": "RALGAPA2",
"hgvs_c": "c.5647C>T",
"hgvs_p": "p.Arg1883*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006723662.1",
"strand": false,
"transcript": "XM_006723599.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1808,
"aa_ref": "R",
"aa_start": 1721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9482,
"cdna_start": 5647,
"cds_end": null,
"cds_length": 5427,
"cds_start": 5161,
"consequences": [
"stop_gained"
],
"exon_count": 38,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "XM_011529310.3",
"gene_hgnc_id": 16207,
"gene_symbol": "RALGAPA2",
"hgvs_c": "c.5161C>T",
"hgvs_p": "p.Arg1721*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527612.1",
"strand": false,
"transcript": "XM_011529310.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1371,
"aa_ref": "R",
"aa_start": 1284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7761,
"cdna_start": 3926,
"cds_end": null,
"cds_length": 4116,
"cds_start": 3850,
"consequences": [
"stop_gained"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047440322.1",
"gene_hgnc_id": 16207,
"gene_symbol": "RALGAPA2",
"hgvs_c": "c.3850C>T",
"hgvs_p": "p.Arg1284*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296278.1",
"strand": false,
"transcript": "XM_047440322.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1344,
"aa_ref": "R",
"aa_start": 1257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10094,
"cdna_start": 6259,
"cds_end": null,
"cds_length": 4035,
"cds_start": 3769,
"consequences": [
"stop_gained"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_011529311.3",
"gene_hgnc_id": 16207,
"gene_symbol": "RALGAPA2",
"hgvs_c": "c.3769C>T",
"hgvs_p": "p.Arg1257*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527613.2",
"strand": false,
"transcript": "XM_011529311.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1324,
"aa_ref": "R",
"aa_start": 1237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7692,
"cdna_start": 3857,
"cds_end": null,
"cds_length": 3975,
"cds_start": 3709,
"consequences": [
"stop_gained"
],
"exon_count": 26,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_047440323.1",
"gene_hgnc_id": 16207,
"gene_symbol": "RALGAPA2",
"hgvs_c": "c.3709C>T",
"hgvs_p": "p.Arg1237*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296279.1",
"strand": false,
"transcript": "XM_047440323.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1297,
"aa_ref": "R",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9952,
"cdna_start": 6117,
"cds_end": null,
"cds_length": 3894,
"cds_start": 3628,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047440324.1",
"gene_hgnc_id": 16207,
"gene_symbol": "RALGAPA2",
"hgvs_c": "c.3628C>T",
"hgvs_p": "p.Arg1210*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296280.1",
"strand": false,
"transcript": "XM_047440324.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 11324,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 42,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "XR_001754352.2",
"gene_hgnc_id": 16207,
"gene_symbol": "RALGAPA2",
"hgvs_c": "n.5811C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_001754352.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 10068,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 43,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "XR_007067470.1",
"gene_hgnc_id": 16207,
"gene_symbol": "RALGAPA2",
"hgvs_c": "n.5811C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007067470.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 11183,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 41,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "XR_007067471.1",
"gene_hgnc_id": 16207,
"gene_symbol": "RALGAPA2",
"hgvs_c": "n.5670C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007067471.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 9970,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 42,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "XR_937111.3",
"gene_hgnc_id": 16207,
"gene_symbol": "RALGAPA2",
"hgvs_c": "n.5811C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_937111.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2060075185",
"effect": "stop_gained",
"frequency_reference_population": 0.0000013683728,
"gene_hgnc_id": 16207,
"gene_symbol": "RALGAPA2",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000136837,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.109,
"pos": 20412138,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.05999999865889549,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.06,
"transcript": "NM_020343.4"
}
]
}