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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: 6-105278237-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=105278237&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 105278237,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002726.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.2040C>G",
"hgvs_p": "p.His680Gln",
"transcript": "NM_002726.5",
"protein_id": "NP_002717.3",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 710,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 2231,
"cdna_end": null,
"cdna_length": 7250,
"mane_select": "ENST00000652536.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002726.5"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.2040C>G",
"hgvs_p": "p.His680Gln",
"transcript": "ENST00000652536.2",
"protein_id": "ENSP00000499089.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 710,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 2231,
"cdna_end": null,
"cdna_length": 7250,
"mane_select": "NM_002726.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652536.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.1842C>G",
"hgvs_p": "p.His614Gln",
"transcript": "ENST00000369110.8",
"protein_id": "ENSP00000358106.4",
"transcript_support_level": 1,
"aa_start": 614,
"aa_end": null,
"aa_length": 644,
"cds_start": 1842,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 2805,
"cdna_end": null,
"cdna_length": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369110.8"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.2106C>G",
"hgvs_p": "p.His702Gln",
"transcript": "ENST00000969640.1",
"protein_id": "ENSP00000639699.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 732,
"cds_start": 2106,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2299,
"cdna_end": null,
"cdna_length": 2816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969640.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.2031C>G",
"hgvs_p": "p.His677Gln",
"transcript": "ENST00000910823.1",
"protein_id": "ENSP00000580882.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 707,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2222,
"cdna_end": null,
"cdna_length": 2738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910823.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.2031C>G",
"hgvs_p": "p.His677Gln",
"transcript": "ENST00000910825.1",
"protein_id": "ENSP00000580884.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 707,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2222,
"cdna_end": null,
"cdna_length": 2690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910825.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.1989C>G",
"hgvs_p": "p.His663Gln",
"transcript": "ENST00000910821.1",
"protein_id": "ENSP00000580880.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 693,
"cds_start": 1989,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 2411,
"cdna_end": null,
"cdna_length": 2931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910821.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.1848C>G",
"hgvs_p": "p.His616Gln",
"transcript": "ENST00000910822.1",
"protein_id": "ENSP00000580881.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 646,
"cds_start": 1848,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 2056,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910822.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.1839C>G",
"hgvs_p": "p.His613Gln",
"transcript": "ENST00000920421.1",
"protein_id": "ENSP00000590480.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 643,
"cds_start": 1839,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920421.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.1797C>G",
"hgvs_p": "p.His599Gln",
"transcript": "ENST00000910824.1",
"protein_id": "ENSP00000580883.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 629,
"cds_start": 1797,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1988,
"cdna_end": null,
"cdna_length": 2497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910824.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.1656C>G",
"hgvs_p": "p.His552Gln",
"transcript": "ENST00000969641.1",
"protein_id": "ENSP00000639700.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 582,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1817,
"cdna_end": null,
"cdna_length": 2334,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969641.1"
}
],
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"dbsnp": "rs116581811",
"frequency_reference_population": 0.0000013680976,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013681,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9902420043945312,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.829,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9996,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.36,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": -0.034,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_002726.5",
"gene_symbol": "PREP",
"hgnc_id": 9358,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2040C>G",
"hgvs_p": "p.His680Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}