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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: 11-128935695-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=128935695&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 128935695,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_022112.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"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": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.271T>C",
"hgvs_p": "p.Ser91Pro",
"transcript": "NM_022112.3",
"protein_id": "NP_071395.2",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 124,
"cds_start": 271,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000531399.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022112.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.271T>C",
"hgvs_p": "p.Ser91Pro",
"transcript": "ENST00000531399.6",
"protein_id": "ENSP00000432743.1",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 124,
"cds_start": 271,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022112.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531399.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.259T>C",
"hgvs_p": "p.Ser87Pro",
"transcript": "ENST00000530777.5",
"protein_id": "ENSP00000432908.1",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 120,
"cds_start": 259,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530777.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.*1797T>C",
"hgvs_p": null,
"transcript": "ENST00000602346.5",
"protein_id": "ENSP00000473353.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 108,
"cds_start": null,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602346.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.254-651T>C",
"hgvs_p": null,
"transcript": "ENST00000458238.6",
"protein_id": "ENSP00000390694.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 86,
"cds_start": null,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458238.6"
},
{
"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": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "n.2550T>C",
"hgvs_p": null,
"transcript": "ENST00000525390.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000525390.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.259T>C",
"hgvs_p": "p.Ser87Pro",
"transcript": "NM_001195194.1",
"protein_id": "NP_001182123.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 120,
"cds_start": 259,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195194.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.337T>C",
"hgvs_p": "p.Ser113Pro",
"transcript": "XM_017018113.2",
"protein_id": "XP_016873602.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 146,
"cds_start": 337,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018113.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.325T>C",
"hgvs_p": "p.Ser109Pro",
"transcript": "XM_017018114.2",
"protein_id": "XP_016873603.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 142,
"cds_start": 325,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018114.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.271T>C",
"hgvs_p": "p.Ser91Pro",
"transcript": "XM_017018116.2",
"protein_id": "XP_016873605.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 124,
"cds_start": 271,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018116.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.*1797T>C",
"hgvs_p": null,
"transcript": "NM_001251964.2",
"protein_id": "NP_001238893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 108,
"cds_start": null,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001251964.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.254-651T>C",
"hgvs_p": null,
"transcript": "NM_001195195.2",
"protein_id": "NP_001182124.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 86,
"cds_start": null,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195195.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.320-651T>C",
"hgvs_p": null,
"transcript": "XM_017018117.2",
"protein_id": "XP_016873606.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 108,
"cds_start": null,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018117.2"
}
],
"gene_symbol": "TP53AIP1",
"gene_hgnc_id": 29984,
"dbsnp": "rs755130715",
"frequency_reference_population": 0.000039239512,
"hom_count_reference_population": 0,
"allele_count_reference_population": 62,
"gnomad_exomes_af": 0.0000420248,
"gnomad_genomes_af": 0.0000131309,
"gnomad_exomes_ac": 60,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.031678736209869385,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.1512,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.187,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_022112.3",
"gene_symbol": "TP53AIP1",
"hgnc_id": 29984,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.271T>C",
"hgvs_p": "p.Ser91Pro"
}
],
"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
}