← Back to variant description
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: 3-170866402-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=170866402&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 170866402,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001099645.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL22L1",
"gene_hgnc_id": 27610,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Asp116Gly",
"transcript": "NM_001099645.2",
"protein_id": "NP_001093115.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 122,
"cds_start": 347,
"cds_end": null,
"cds_length": 369,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 1902,
"mane_select": "ENST00000295830.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099645.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL22L1",
"gene_hgnc_id": 27610,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Asp116Gly",
"transcript": "ENST00000295830.13",
"protein_id": "ENSP00000346080.7",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 122,
"cds_start": 347,
"cds_end": null,
"cds_length": 369,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 1902,
"mane_select": "NM_001099645.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295830.13"
},
{
"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": "RPL22L1",
"gene_hgnc_id": 27610,
"hgvs_c": "n.*219A>G",
"hgvs_p": null,
"transcript": "ENST00000475836.5",
"protein_id": "ENSP00000418909.1",
"transcript_support_level": 1,
"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": 581,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000475836.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL22L1",
"gene_hgnc_id": 27610,
"hgvs_c": "n.*219A>G",
"hgvs_p": null,
"transcript": "ENST00000475836.5",
"protein_id": "ENSP00000418909.1",
"transcript_support_level": 1,
"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": 581,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000475836.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL22L1",
"gene_hgnc_id": 27610,
"hgvs_c": "c.407A>G",
"hgvs_p": "p.Asp136Gly",
"transcript": "ENST00000466674.5",
"protein_id": "ENSP00000419713.1",
"transcript_support_level": 3,
"aa_start": 136,
"aa_end": null,
"aa_length": 142,
"cds_start": 407,
"cds_end": null,
"cds_length": 429,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000466674.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL22L1",
"gene_hgnc_id": 27610,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Asp115Gly",
"transcript": "NM_001320451.2",
"protein_id": "NP_001307380.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 121,
"cds_start": 344,
"cds_end": null,
"cds_length": 366,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 1899,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320451.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL22L1",
"gene_hgnc_id": 27610,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Asp115Gly",
"transcript": "ENST00000463836.1",
"protein_id": "ENSP00000419041.1",
"transcript_support_level": 2,
"aa_start": 115,
"aa_end": null,
"aa_length": 121,
"cds_start": 344,
"cds_end": null,
"cds_length": 366,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463836.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL22L1",
"gene_hgnc_id": 27610,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Asp115Gly",
"transcript": "ENST00000934973.1",
"protein_id": "ENSP00000605032.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 121,
"cds_start": 344,
"cds_end": null,
"cds_length": 366,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934973.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL22L1",
"gene_hgnc_id": 27610,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Asp115Gly",
"transcript": "ENST00000934976.1",
"protein_id": "ENSP00000605035.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 121,
"cds_start": 344,
"cds_end": null,
"cds_length": 366,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934976.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL22L1",
"gene_hgnc_id": 27610,
"hgvs_c": "c.326A>G",
"hgvs_p": "p.Asp109Gly",
"transcript": "ENST00000967081.1",
"protein_id": "ENSP00000637140.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 115,
"cds_start": 326,
"cds_end": null,
"cds_length": 348,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 435,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967081.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL22L1",
"gene_hgnc_id": 27610,
"hgvs_c": "c.323A>G",
"hgvs_p": "p.Asp108Gly",
"transcript": "ENST00000934975.1",
"protein_id": "ENSP00000605034.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 114,
"cds_start": 323,
"cds_end": null,
"cds_length": 345,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934975.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL22L1",
"gene_hgnc_id": 27610,
"hgvs_c": "c.254A>G",
"hgvs_p": "p.Asp85Gly",
"transcript": "ENST00000934974.1",
"protein_id": "ENSP00000605033.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 91,
"cds_start": 254,
"cds_end": null,
"cds_length": 276,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934974.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "RPL22L1",
"gene_hgnc_id": 27610,
"hgvs_c": "n.292A>G",
"hgvs_p": null,
"transcript": "ENST00000478578.1",
"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": 900,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000478578.1"
},
{
"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": "RPL22L1",
"gene_hgnc_id": 27610,
"hgvs_c": "n.*219A>G",
"hgvs_p": null,
"transcript": "ENST00000494771.5",
"protein_id": "ENSP00000420039.1",
"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": 587,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000494771.5"
},
{
"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": "RPL22L1",
"gene_hgnc_id": 27610,
"hgvs_c": "n.442A>G",
"hgvs_p": null,
"transcript": "NR_135259.2",
"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": 1969,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135259.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL22L1",
"gene_hgnc_id": 27610,
"hgvs_c": "n.*219A>G",
"hgvs_p": null,
"transcript": "ENST00000494771.5",
"protein_id": "ENSP00000420039.1",
"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": 587,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000494771.5"
}
],
"gene_symbol": "RPL22L1",
"gene_hgnc_id": 27610,
"dbsnp": "rs1221773396",
"frequency_reference_population": 0.0000024894973,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000137504,
"gnomad_genomes_af": 0.000013137,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4232195317745209,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.196,
"revel_prediction": "Benign",
"alphamissense_score": 0.145,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.671,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.05,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001099645.2",
"gene_symbol": "RPL22L1",
"hgnc_id": 27610,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Asp116Gly"
}
],
"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
}