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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: 13-100532402-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=100532402&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GGACT",
"hgnc_id": 25100,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_033110.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.1041,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"chr": "13",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.06597083806991577,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 153,
"aa_ref": "E",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2644,
"cdna_start": 422,
"cds_end": null,
"cds_length": 462,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001195087.2",
"gene_hgnc_id": 25100,
"gene_symbol": "GGACT",
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000683975.1",
"protein_coding": true,
"protein_id": "NP_001182016.1",
"strand": false,
"transcript": "NM_001195087.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 153,
"aa_ref": "E",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2644,
"cdna_start": 422,
"cds_end": null,
"cds_length": 462,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000683975.1",
"gene_hgnc_id": 25100,
"gene_symbol": "GGACT",
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001195087.2",
"protein_coding": true,
"protein_id": "ENSP00000508020.1",
"strand": false,
"transcript": "ENST00000683975.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 153,
"aa_ref": "E",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2678,
"cdna_start": 440,
"cds_end": null,
"cds_length": 462,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000455100.2",
"gene_hgnc_id": 25100,
"gene_symbol": "GGACT",
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410449.1",
"strand": false,
"transcript": "ENST00000455100.2",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 153,
"aa_ref": "E",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2662,
"cdna_start": 440,
"cds_end": null,
"cds_length": 462,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_033110.3",
"gene_hgnc_id": 25100,
"gene_symbol": "GGACT",
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_149101.1",
"strand": false,
"transcript": "NM_033110.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 153,
"aa_ref": "E",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2804,
"cdna_start": 585,
"cds_end": null,
"cds_length": 462,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000376250.6",
"gene_hgnc_id": 25100,
"gene_symbol": "GGACT",
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365426.1",
"strand": false,
"transcript": "ENST00000376250.6",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 153,
"aa_ref": "E",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1156,
"cdna_start": 282,
"cds_end": null,
"cds_length": 462,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000881872.1",
"gene_hgnc_id": 25100,
"gene_symbol": "GGACT",
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551931.1",
"strand": false,
"transcript": "ENST00000881872.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 153,
"aa_ref": "E",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4633,
"cdna_start": 265,
"cds_end": null,
"cds_length": 462,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000881873.1",
"gene_hgnc_id": 25100,
"gene_symbol": "GGACT",
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551932.1",
"strand": false,
"transcript": "ENST00000881873.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 153,
"aa_ref": "E",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1479,
"cdna_start": 662,
"cds_end": null,
"cds_length": 462,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000881874.1",
"gene_hgnc_id": 25100,
"gene_symbol": "GGACT",
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551933.1",
"strand": false,
"transcript": "ENST00000881874.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 153,
"aa_ref": "E",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7993,
"cdna_start": 5771,
"cds_end": null,
"cds_length": 462,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011521129.4",
"gene_hgnc_id": 25100,
"gene_symbol": "GGACT",
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519431.1",
"strand": false,
"transcript": "XM_011521129.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 153,
"aa_ref": "E",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2785,
"cdna_start": 563,
"cds_end": null,
"cds_length": 462,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047430708.1",
"gene_hgnc_id": 25100,
"gene_symbol": "GGACT",
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286664.1",
"strand": false,
"transcript": "XM_047430708.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 31,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 296,
"cdna_start": null,
"cds_end": null,
"cds_length": 97,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000467518.5",
"gene_hgnc_id": 25100,
"gene_symbol": "GGACT",
"hgvs_c": "c.*93G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472246.1",
"strand": true,
"transcript": "ENST00000467518.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 31,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 498,
"cdna_start": null,
"cds_end": null,
"cds_length": 97,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000492399.5",
"gene_hgnc_id": 25100,
"gene_symbol": "GGACT",
"hgvs_c": "c.*93G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471342.1",
"strand": true,
"transcript": "ENST00000492399.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 25,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 455,
"cdna_start": null,
"cds_end": null,
"cds_length": 78,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000464500.5",
"gene_hgnc_id": 25100,
"gene_symbol": "GGACT",
"hgvs_c": "c.*112G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471322.1",
"strand": true,
"transcript": "ENST00000464500.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 25,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 393,
"cdna_start": null,
"cds_end": null,
"cds_length": 78,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000471912.1",
"gene_hgnc_id": 25100,
"gene_symbol": "GGACT",
"hgvs_c": "c.*112G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471716.1",
"strand": true,
"transcript": "ENST00000471912.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs940222540",
"effect": "missense_variant",
"frequency_reference_population": 0.000032842447,
"gene_hgnc_id": 25100,
"gene_symbol": "GGACT",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": 5,
"gnomad_genomes_af": 0.0000328424,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.782,
"pos": 100532402,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.037,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_033110.3"
}
]
}