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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: 2-28412095-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=28412095&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 28412095,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005253.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSL2",
"gene_hgnc_id": 3798,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Arg210Ser",
"transcript": "NM_005253.4",
"protein_id": "NP_005244.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 326,
"cds_start": 628,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264716.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005253.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSL2",
"gene_hgnc_id": 3798,
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Arg210Ser",
"transcript": "ENST00000264716.9",
"protein_id": "ENSP00000264716.4",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 326,
"cds_start": 628,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005253.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264716.9"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSL2",
"gene_hgnc_id": 3798,
"hgvs_c": "c.604C>A",
"hgvs_p": "p.Arg202Ser",
"transcript": "ENST00000379619.5",
"protein_id": "ENSP00000368939.1",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 318,
"cds_start": 604,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379619.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSL2",
"gene_hgnc_id": 3798,
"hgvs_c": "c.679C>A",
"hgvs_p": "p.Arg227Ser",
"transcript": "ENST00000902793.1",
"protein_id": "ENSP00000572852.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 343,
"cds_start": 679,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902793.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSL2",
"gene_hgnc_id": 3798,
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Arg126Ser",
"transcript": "ENST00000956567.1",
"protein_id": "ENSP00000626626.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 242,
"cds_start": 376,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956567.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSL2",
"gene_hgnc_id": 3798,
"hgvs_c": "c.511C>A",
"hgvs_p": "p.Arg171Ser",
"transcript": "ENST00000436647.1",
"protein_id": "ENSP00000396497.1",
"transcript_support_level": 2,
"aa_start": 171,
"aa_end": null,
"aa_length": 201,
"cds_start": 511,
"cds_end": null,
"cds_length": 608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436647.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSL2",
"gene_hgnc_id": 3798,
"hgvs_c": "c.679C>A",
"hgvs_p": "p.Arg227Ser",
"transcript": "XM_006711976.4",
"protein_id": "XP_006712039.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 343,
"cds_start": 679,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711976.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSL2",
"gene_hgnc_id": 3798,
"hgvs_c": "c.562C>A",
"hgvs_p": "p.Arg188Ser",
"transcript": "XM_006711977.4",
"protein_id": "XP_006712040.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 304,
"cds_start": 562,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711977.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOSL2",
"gene_hgnc_id": 3798,
"hgvs_c": "c.*113C>A",
"hgvs_p": null,
"transcript": "XM_005264231.5",
"protein_id": "XP_005264288.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 205,
"cds_start": null,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264231.5"
}
],
"gene_symbol": "FOSL2",
"gene_hgnc_id": 3798,
"dbsnp": "rs767175362",
"frequency_reference_population": 6.876066e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.87607e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.41199925541877747,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.297,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2305,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.987,
"phylop100way_prediction": "Uncertain_significance",
"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": 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_005253.4",
"gene_symbol": "FOSL2",
"hgnc_id": 3798,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.628C>A",
"hgvs_p": "p.Arg210Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}