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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: 2-28412111-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=28412111&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FOSL2",
"hgnc_id": 3798,
"hgvs_c": "c.644C>G",
"hgvs_p": "p.Ser215Trp",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_005253.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.1546,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.14691108465194702,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 326,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6713,
"cdna_start": 1507,
"cds_end": null,
"cds_length": 981,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_005253.4",
"gene_hgnc_id": 3798,
"gene_symbol": "FOSL2",
"hgvs_c": "c.644C>G",
"hgvs_p": "p.Ser215Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264716.9",
"protein_coding": true,
"protein_id": "NP_005244.1",
"strand": true,
"transcript": "NM_005253.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 326,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6713,
"cdna_start": 1507,
"cds_end": null,
"cds_length": 981,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000264716.9",
"gene_hgnc_id": 3798,
"gene_symbol": "FOSL2",
"hgvs_c": "c.644C>G",
"hgvs_p": "p.Ser215Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005253.4",
"protein_coding": true,
"protein_id": "ENSP00000264716.4",
"strand": true,
"transcript": "ENST00000264716.9",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 318,
"aa_ref": "S",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5829,
"cdna_start": 628,
"cds_end": null,
"cds_length": 957,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000379619.5",
"gene_hgnc_id": 3798,
"gene_symbol": "FOSL2",
"hgvs_c": "c.620C>G",
"hgvs_p": "p.Ser207Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000368939.1",
"strand": true,
"transcript": "ENST00000379619.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 343,
"aa_ref": "S",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1795,
"cdna_start": 936,
"cds_end": null,
"cds_length": 1032,
"cds_start": 695,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000902793.1",
"gene_hgnc_id": 3798,
"gene_symbol": "FOSL2",
"hgvs_c": "c.695C>G",
"hgvs_p": "p.Ser232Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572852.1",
"strand": true,
"transcript": "ENST00000902793.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 242,
"aa_ref": "S",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2115,
"cdna_start": 1255,
"cds_end": null,
"cds_length": 729,
"cds_start": 392,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000956567.1",
"gene_hgnc_id": 3798,
"gene_symbol": "FOSL2",
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Ser131Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626626.1",
"strand": true,
"transcript": "ENST00000956567.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 201,
"aa_ref": "S",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 889,
"cdna_start": 808,
"cds_end": null,
"cds_length": 608,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000436647.1",
"gene_hgnc_id": 3798,
"gene_symbol": "FOSL2",
"hgvs_c": "c.527C>G",
"hgvs_p": "p.Ser176Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396497.1",
"strand": true,
"transcript": "ENST00000436647.1",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 343,
"aa_ref": "S",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6764,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 1032,
"cds_start": 695,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_006711976.4",
"gene_hgnc_id": 3798,
"gene_symbol": "FOSL2",
"hgvs_c": "c.695C>G",
"hgvs_p": "p.Ser232Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006712039.1",
"strand": true,
"transcript": "XM_006711976.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 304,
"aa_ref": "S",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5850,
"cdna_start": 644,
"cds_end": null,
"cds_length": 915,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_006711977.4",
"gene_hgnc_id": 3798,
"gene_symbol": "FOSL2",
"hgvs_c": "c.578C>G",
"hgvs_p": "p.Ser193Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006712040.1",
"strand": true,
"transcript": "XM_006711977.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 205,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6816,
"cdna_start": null,
"cds_end": null,
"cds_length": 618,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_005264231.5",
"gene_hgnc_id": 3798,
"gene_symbol": "FOSL2",
"hgvs_c": "c.*129C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005264288.1",
"strand": true,
"transcript": "XM_005264231.5",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs145636135",
"effect": "missense_variant",
"frequency_reference_population": 0.0000020633986,
"gene_hgnc_id": 3798,
"gene_symbol": "FOSL2",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.0000020634,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.322,
"pos": 28412111,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.197,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_005253.4"
}
]
}