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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: 11-128936579-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=128936579&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 128936579,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022112.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.212C>G",
"hgvs_p": "p.Ser71Trp",
"transcript": "NM_022112.3",
"protein_id": "NP_071395.2",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 124,
"cds_start": 212,
"cds_end": null,
"cds_length": 375,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 750,
"mane_select": "ENST00000531399.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022112.3"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.212C>G",
"hgvs_p": "p.Ser71Trp",
"transcript": "ENST00000531399.6",
"protein_id": "ENSP00000432743.1",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 124,
"cds_start": 212,
"cds_end": null,
"cds_length": 375,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 750,
"mane_select": "NM_022112.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531399.6"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.212C>G",
"hgvs_p": "p.Ser71Trp",
"transcript": "ENST00000530777.5",
"protein_id": "ENSP00000432908.1",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 120,
"cds_start": 212,
"cds_end": null,
"cds_length": 363,
"cdna_start": 212,
"cdna_end": null,
"cdna_length": 363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530777.5"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.212C>G",
"hgvs_p": "p.Ser71Trp",
"transcript": "ENST00000458238.6",
"protein_id": "ENSP00000390694.2",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 86,
"cds_start": 212,
"cds_end": null,
"cds_length": 261,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458238.6"
},
{
"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.*913C>G",
"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": 3124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602346.5"
},
{
"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.1666C>G",
"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": 2875,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000525390.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_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": "n.*801C>G",
"hgvs_p": null,
"transcript": "ENST00000527504.1",
"protein_id": "ENSP00000435175.1",
"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": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000527504.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_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": "n.*801C>G",
"hgvs_p": null,
"transcript": "ENST00000527504.1",
"protein_id": "ENSP00000435175.1",
"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": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000527504.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.212C>G",
"hgvs_p": "p.Ser71Trp",
"transcript": "NM_001195194.1",
"protein_id": "NP_001182123.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 120,
"cds_start": 212,
"cds_end": null,
"cds_length": 363,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195194.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.212C>G",
"hgvs_p": "p.Ser71Trp",
"transcript": "NM_001195195.2",
"protein_id": "NP_001182124.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 86,
"cds_start": 212,
"cds_end": null,
"cds_length": 261,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195195.2"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.278C>G",
"hgvs_p": "p.Ser93Trp",
"transcript": "XM_017018113.2",
"protein_id": "XP_016873602.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 146,
"cds_start": 278,
"cds_end": null,
"cds_length": 441,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018113.2"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.278C>G",
"hgvs_p": "p.Ser93Trp",
"transcript": "XM_017018114.2",
"protein_id": "XP_016873603.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 142,
"cds_start": 278,
"cds_end": null,
"cds_length": 429,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 678,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018114.2"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.212C>G",
"hgvs_p": "p.Ser71Trp",
"transcript": "XM_017018116.2",
"protein_id": "XP_016873605.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 124,
"cds_start": 212,
"cds_end": null,
"cds_length": 375,
"cdna_start": 4969,
"cdna_end": null,
"cdna_length": 5353,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018116.2"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.278C>G",
"hgvs_p": "p.Ser93Trp",
"transcript": "XM_017018117.2",
"protein_id": "XP_016873606.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 108,
"cds_start": 278,
"cds_end": null,
"cds_length": 327,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018117.2"
},
{
"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.*913C>G",
"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": 2603,
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.*55C>G",
"hgvs_p": null,
"transcript": "XM_017018115.3",
"protein_id": "XP_016873604.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": null,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018115.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "TP53AIP1",
"gene_hgnc_id": 29984,
"hgvs_c": "c.*55C>G",
"hgvs_p": null,
"transcript": "XM_047427398.1",
"protein_id": "XP_047283354.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 106,
"cds_start": null,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427398.1"
}
],
"gene_symbol": "TP53AIP1",
"gene_hgnc_id": 29984,
"dbsnp": "rs758897656",
"frequency_reference_population": 0.0000013941499,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000139415,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13465383648872375,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.094,
"revel_prediction": "Benign",
"alphamissense_score": 0.4077,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.163,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022112.3",
"gene_symbol": "TP53AIP1",
"hgnc_id": 29984,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.212C>G",
"hgvs_p": "p.Ser71Trp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}