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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: 6-105328904-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=105328904&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 105328904,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002726.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Gly380Ser",
"transcript": "NM_002726.5",
"protein_id": "NP_002717.3",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 710,
"cds_start": 1138,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000652536.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002726.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Gly380Ser",
"transcript": "ENST00000652536.2",
"protein_id": "ENSP00000499089.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 710,
"cds_start": 1138,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002726.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652536.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.940G>A",
"hgvs_p": "p.Gly314Ser",
"transcript": "ENST00000369110.8",
"protein_id": "ENSP00000358106.4",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 644,
"cds_start": 940,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369110.8"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.1204G>A",
"hgvs_p": "p.Gly402Ser",
"transcript": "ENST00000969640.1",
"protein_id": "ENSP00000639699.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 732,
"cds_start": 1204,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969640.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Gly380Ser",
"transcript": "ENST00000910823.1",
"protein_id": "ENSP00000580882.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 707,
"cds_start": 1138,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910823.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.1129G>A",
"hgvs_p": "p.Gly377Ser",
"transcript": "ENST00000910825.1",
"protein_id": "ENSP00000580884.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 707,
"cds_start": 1129,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910825.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Gly380Ser",
"transcript": "ENST00000910821.1",
"protein_id": "ENSP00000580880.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 693,
"cds_start": 1138,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910821.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Gly316Ser",
"transcript": "ENST00000910822.1",
"protein_id": "ENSP00000580881.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 646,
"cds_start": 946,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910822.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Gly316Ser",
"transcript": "ENST00000920421.1",
"protein_id": "ENSP00000590480.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 643,
"cds_start": 946,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920421.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Gly316Ser",
"transcript": "ENST00000910824.1",
"protein_id": "ENSP00000580883.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 629,
"cds_start": 946,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910824.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Gly380Ser",
"transcript": "ENST00000969641.1",
"protein_id": "ENSP00000639700.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 582,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969641.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Gly380Ser",
"transcript": "XM_011535925.4",
"protein_id": "XP_011534227.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 492,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535925.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "PREP",
"gene_hgnc_id": 9358,
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Gly380Ser",
"transcript": "XM_005267044.4",
"protein_id": "XP_005267101.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 449,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267044.4"
}
],
"gene_symbol": "PREP",
"gene_hgnc_id": 9358,
"dbsnp": "rs548769535",
"frequency_reference_population": 0.00004398916,
"hom_count_reference_population": 1,
"allele_count_reference_population": 71,
"gnomad_exomes_af": 0.0000396748,
"gnomad_genomes_af": 0.0000854431,
"gnomad_exomes_ac": 58,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8744726181030273,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.578,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9024,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.503,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002726.5",
"gene_symbol": "PREP",
"hgnc_id": 9358,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Gly380Ser"
}
],
"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
}