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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: 6-42564364-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=42564364&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 42564364,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000372901.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Ser15Ser",
"transcript": "NM_001363705.2",
"protein_id": "NP_001350634.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 1755,
"cds_start": 45,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 7891,
"mane_select": "ENST00000372901.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Ser15Ser",
"transcript": "ENST00000372901.2",
"protein_id": "ENSP00000361992.1",
"transcript_support_level": 5,
"aa_start": 15,
"aa_end": null,
"aa_length": 1755,
"cds_start": 45,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 7891,
"mane_select": "NM_001363705.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Ser15Ser",
"transcript": "ENST00000372899.6",
"protein_id": "ENSP00000361990.1",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 1755,
"cds_start": 45,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 7891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Ser15Ser",
"transcript": "ENST00000372903.6",
"protein_id": "ENSP00000361994.2",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 439,
"cds_start": 45,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Ser15Ser",
"transcript": "NM_015255.3",
"protein_id": "NP_056070.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 1755,
"cds_start": 45,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 7891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Ser15Ser",
"transcript": "NM_001184801.2",
"protein_id": "NP_001171730.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 439,
"cds_start": 45,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 2456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Ser15Ser",
"transcript": "XM_047418495.1",
"protein_id": "XP_047274451.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 539,
"cds_start": 45,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 2013,
"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": 1,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.-9C>T",
"hgvs_p": null,
"transcript": "XM_011514438.3",
"protein_id": "XP_011512740.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1782,
"cds_start": -4,
"cds_end": null,
"cds_length": 5349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8025,
"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": 1,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.-9C>T",
"hgvs_p": null,
"transcript": "XM_017010594.2",
"protein_id": "XP_016866083.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1782,
"cds_start": -4,
"cds_end": null,
"cds_length": 5349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8025,
"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": 1,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.-9C>T",
"hgvs_p": null,
"transcript": "XM_047418493.1",
"protein_id": "XP_047274449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1708,
"cds_start": -4,
"cds_end": null,
"cds_length": 5127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6012,
"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": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.-9C>T",
"hgvs_p": null,
"transcript": "XM_017010597.2",
"protein_id": "XP_016866086.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1260,
"cds_start": -4,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4203,
"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": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.-9C>T",
"hgvs_p": null,
"transcript": "XM_047418494.1",
"protein_id": "XP_047274450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1206,
"cds_start": -4,
"cds_end": null,
"cds_length": 3621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"dbsnp": "rs3749897",
"frequency_reference_population": 0.4216131,
"hom_count_reference_population": 144425,
"allele_count_reference_population": 678179,
"gnomad_exomes_af": 0.419015,
"gnomad_genomes_af": 0.446524,
"gnomad_exomes_ac": 610352,
"gnomad_genomes_ac": 67827,
"gnomad_exomes_homalt": 129205,
"gnomad_genomes_homalt": 15220,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.38999998569488525,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.19,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000372901.2",
"gene_symbol": "UBR2",
"hgnc_id": 21289,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.45C>T",
"hgvs_p": "p.Ser15Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}