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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: 2-108010440-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=108010440&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 108010440,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000264047.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A7",
"gene_hgnc_id": 14025,
"hgvs_c": "c.1322C>G",
"hgvs_p": "p.Ser441Cys",
"transcript": "NM_021815.5",
"protein_id": "NP_068587.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 580,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 5167,
"mane_select": "ENST00000264047.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A7",
"gene_hgnc_id": 14025,
"hgvs_c": "c.1322C>G",
"hgvs_p": "p.Ser441Cys",
"transcript": "ENST00000264047.3",
"protein_id": "ENSP00000264047.2",
"transcript_support_level": 1,
"aa_start": 441,
"aa_end": null,
"aa_length": 580,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 5167,
"mane_select": "NM_021815.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A7",
"gene_hgnc_id": 14025,
"hgvs_c": "c.1322C>G",
"hgvs_p": "p.Ser441Cys",
"transcript": "ENST00000409059.5",
"protein_id": "ENSP00000387346.1",
"transcript_support_level": 1,
"aa_start": 441,
"aa_end": null,
"aa_length": 580,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A7",
"gene_hgnc_id": 14025,
"hgvs_c": "c.1322C>G",
"hgvs_p": "p.Ser441Cys",
"transcript": "NM_001305005.3",
"protein_id": "NP_001291934.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 580,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 5164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A7",
"gene_hgnc_id": 14025,
"hgvs_c": "c.1007C>G",
"hgvs_p": "p.Ser336Cys",
"transcript": "NM_001305006.3",
"protein_id": "NP_001291935.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 475,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 4938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A7",
"gene_hgnc_id": 14025,
"hgvs_c": "c.581C>G",
"hgvs_p": "p.Ser194Cys",
"transcript": "NM_001305007.3",
"protein_id": "NP_001291936.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 333,
"cds_start": 581,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1576,
"cdna_end": null,
"cdna_length": 5130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A7",
"gene_hgnc_id": 14025,
"hgvs_c": "c.1322C>G",
"hgvs_p": "p.Ser441Cys",
"transcript": "XM_047445369.1",
"protein_id": "XP_047301325.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 580,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 5285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A7",
"gene_hgnc_id": 14025,
"hgvs_c": "c.1208C>G",
"hgvs_p": "p.Ser403Cys",
"transcript": "XM_047445370.1",
"protein_id": "XP_047301326.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 542,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 5053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A7",
"gene_hgnc_id": 14025,
"hgvs_c": "c.1070C>G",
"hgvs_p": "p.Ser357Cys",
"transcript": "XM_011511580.3",
"protein_id": "XP_011509882.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 496,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1174,
"cdna_end": null,
"cdna_length": 4728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A7",
"gene_hgnc_id": 14025,
"hgvs_c": "c.1007C>G",
"hgvs_p": "p.Ser336Cys",
"transcript": "XM_017004629.3",
"protein_id": "XP_016860118.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 475,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 4713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC5A7",
"gene_hgnc_id": 14025,
"dbsnp": "rs754554826",
"frequency_reference_population": 6.841564e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84156e-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": 0.21870356798171997,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.289,
"revel_prediction": "Benign",
"alphamissense_score": 0.0405,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.435,
"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": "ENST00000264047.3",
"gene_symbol": "SLC5A7",
"hgnc_id": 14025,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1322C>G",
"hgvs_p": "p.Ser441Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}