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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: 14-24311158-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24311158&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 24311158,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000533293.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTB4R2",
"gene_hgnc_id": 19260,
"hgvs_c": "c.494A>G",
"hgvs_p": "p.Asp165Gly",
"transcript": "NM_019839.5",
"protein_id": "NP_062813.2",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 358,
"cds_start": 494,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": "ENST00000533293.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTB4R2",
"gene_hgnc_id": 19260,
"hgvs_c": "c.494A>G",
"hgvs_p": "p.Asp165Gly",
"transcript": "ENST00000533293.2",
"protein_id": "ENSP00000433290.1",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 358,
"cds_start": 494,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": "NM_019839.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTB4R2",
"gene_hgnc_id": 19260,
"hgvs_c": "c.494A>G",
"hgvs_p": "p.Asp165Gly",
"transcript": "ENST00000543919.1",
"protein_id": "ENSP00000445772.1",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 358,
"cds_start": 494,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTB4R2",
"gene_hgnc_id": 19260,
"hgvs_c": "c.494A>G",
"hgvs_p": "p.Asp165Gly",
"transcript": "ENST00000530080.1",
"protein_id": "ENSP00000434760.1",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 318,
"cds_start": 494,
"cds_end": null,
"cds_length": 957,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 1108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.-924T>C",
"hgvs_p": null,
"transcript": "ENST00000258807.5",
"protein_id": "ENSP00000258807.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": -4,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTB4R2",
"gene_hgnc_id": 19260,
"hgvs_c": "c.587A>G",
"hgvs_p": "p.Asp196Gly",
"transcript": "ENST00000528054.1",
"protein_id": "ENSP00000432146.1",
"transcript_support_level": 6,
"aa_start": 196,
"aa_end": null,
"aa_length": 389,
"cds_start": 587,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 2204,
"cdna_end": null,
"cdna_length": 3092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTB4R2",
"gene_hgnc_id": 19260,
"hgvs_c": "c.494A>G",
"hgvs_p": "p.Asp165Gly",
"transcript": "NM_001164692.3",
"protein_id": "NP_001158164.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 358,
"cds_start": 494,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 1556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.-1066T>C",
"hgvs_p": null,
"transcript": "NM_001318807.3",
"protein_id": "NP_001305736.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": -4,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.-2642T>C",
"hgvs_p": null,
"transcript": "NM_001393334.1",
"protein_id": "NP_001380263.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": -4,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.-957T>C",
"hgvs_p": null,
"transcript": "NM_001393335.1",
"protein_id": "NP_001380264.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": -4,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.-832T>C",
"hgvs_p": null,
"transcript": "NM_001393336.1",
"protein_id": "NP_001380265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": -4,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.-1020T>C",
"hgvs_p": null,
"transcript": "NM_001393337.1",
"protein_id": "NP_001380266.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": -4,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.-1099T>C",
"hgvs_p": null,
"transcript": "NM_001393338.1",
"protein_id": "NP_001380267.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": -4,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.-924T>C",
"hgvs_p": null,
"transcript": "NM_014430.4",
"protein_id": "NP_055245.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": -4,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "c.-1066T>C",
"hgvs_p": null,
"transcript": "ENST00000336557.9",
"protein_id": "ENSP00000337731.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": -4,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CIDEB",
"gene_hgnc_id": 1977,
"hgvs_c": "n.204-11T>C",
"hgvs_p": null,
"transcript": "ENST00000555817.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTB4R2",
"gene_hgnc_id": 19260,
"hgvs_c": "c.*13A>G",
"hgvs_p": null,
"transcript": "ENST00000527924.6",
"protein_id": "ENSP00000436668.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": -4,
"cds_end": null,
"cds_length": 481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LTB4R2",
"gene_hgnc_id": 19260,
"dbsnp": "rs1950504",
"frequency_reference_population": 0.00691768,
"hom_count_reference_population": 717,
"allele_count_reference_population": 11089,
"gnomad_exomes_af": 0.00368911,
"gnomad_genomes_af": 0.0376849,
"gnomad_exomes_ac": 5352,
"gnomad_genomes_ac": 5737,
"gnomad_exomes_homalt": 352,
"gnomad_genomes_homalt": 365,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.001957803964614868,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.1,
"revel_prediction": "Benign",
"alphamissense_score": 0.087,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.889,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000533293.2",
"gene_symbol": "LTB4R2",
"hgnc_id": 19260,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.494A>G",
"hgvs_p": "p.Asp165Gly"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_014430.4",
"gene_symbol": "CIDEB",
"hgnc_id": 1977,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-924T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}