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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: 12-100047574-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=100047574&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 100047574,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015054.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP3B",
"gene_hgnc_id": 29102,
"hgvs_c": "c.4037A>G",
"hgvs_p": "p.His1346Arg",
"transcript": "NM_015054.2",
"protein_id": "NP_055869.1",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1464,
"cds_start": 4037,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000279907.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015054.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP3B",
"gene_hgnc_id": 29102,
"hgvs_c": "c.4037A>G",
"hgvs_p": "p.His1346Arg",
"transcript": "ENST00000279907.12",
"protein_id": "ENSP00000279907.7",
"transcript_support_level": 1,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1464,
"cds_start": 4037,
"cds_end": null,
"cds_length": 4395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015054.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000279907.12"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP3B",
"gene_hgnc_id": 29102,
"hgvs_c": "c.2987A>G",
"hgvs_p": "p.His996Arg",
"transcript": "ENST00000545232.6",
"protein_id": "ENSP00000444824.2",
"transcript_support_level": 1,
"aa_start": 996,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2987,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545232.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP3B",
"gene_hgnc_id": 29102,
"hgvs_c": "c.3938A>G",
"hgvs_p": "p.His1313Arg",
"transcript": "ENST00000949295.1",
"protein_id": "ENSP00000619354.1",
"transcript_support_level": null,
"aa_start": 1313,
"aa_end": null,
"aa_length": 1431,
"cds_start": 3938,
"cds_end": null,
"cds_length": 4296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949295.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP3B",
"gene_hgnc_id": 29102,
"hgvs_c": "c.3863A>G",
"hgvs_p": "p.His1288Arg",
"transcript": "ENST00000927549.1",
"protein_id": "ENSP00000597608.1",
"transcript_support_level": null,
"aa_start": 1288,
"aa_end": null,
"aa_length": 1406,
"cds_start": 3863,
"cds_end": null,
"cds_length": 4221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927549.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP3B",
"gene_hgnc_id": 29102,
"hgvs_c": "c.317A>G",
"hgvs_p": "p.His106Arg",
"transcript": "ENST00000548712.5",
"protein_id": "ENSP00000447809.1",
"transcript_support_level": 3,
"aa_start": 106,
"aa_end": null,
"aa_length": 203,
"cds_start": 317,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548712.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP3B",
"gene_hgnc_id": 29102,
"hgvs_c": "c.3893A>G",
"hgvs_p": "p.His1298Arg",
"transcript": "XM_047428554.1",
"protein_id": "XP_047284510.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1416,
"cds_start": 3893,
"cds_end": null,
"cds_length": 4251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428554.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP3B",
"gene_hgnc_id": 29102,
"hgvs_c": "c.3854A>G",
"hgvs_p": "p.His1285Arg",
"transcript": "XM_005268739.5",
"protein_id": "XP_005268796.1",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1403,
"cds_start": 3854,
"cds_end": null,
"cds_length": 4212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268739.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP3B",
"gene_hgnc_id": 29102,
"hgvs_c": "c.2678A>G",
"hgvs_p": "p.His893Arg",
"transcript": "XM_047428555.1",
"protein_id": "XP_047284511.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2678,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428555.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP3B",
"gene_hgnc_id": 29102,
"hgvs_c": "c.2591A>G",
"hgvs_p": "p.His864Arg",
"transcript": "XM_011538054.4",
"protein_id": "XP_011536356.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 982,
"cds_start": 2591,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538054.4"
}
],
"gene_symbol": "BLTP3B",
"gene_hgnc_id": 29102,
"dbsnp": "rs772774652",
"frequency_reference_population": 0.000009916589,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000547483,
"gnomad_genomes_af": 0.0000525534,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08876121044158936,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.03,
"revel_prediction": "Benign",
"alphamissense_score": 0.0695,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.34,
"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": 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_015054.2",
"gene_symbol": "BLTP3B",
"hgnc_id": 29102,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.4037A>G",
"hgvs_p": "p.His1346Arg"
}
],
"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
}