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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: 17-73203051-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=73203051&ref=G&alt=A&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": "COG1",
"hgnc_id": 6545,
"hgvs_c": "c.2125G>A",
"hgvs_p": "p.Val709Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_018714.3",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000277728",
"hgnc_id": null,
"hgvs_c": "n.381C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000613523.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0659,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.66,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Prostate cancer",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.024521708488464355,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 980,
"aa_ref": "V",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3014,
"cdna_start": 2140,
"cds_end": null,
"cds_length": 2943,
"cds_start": 2125,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_018714.3",
"gene_hgnc_id": 6545,
"gene_symbol": "COG1",
"hgvs_c": "c.2125G>A",
"hgvs_p": "p.Val709Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000299886.9",
"protein_coding": true,
"protein_id": "NP_061184.1",
"strand": true,
"transcript": "NM_018714.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 980,
"aa_ref": "V",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3014,
"cdna_start": 2140,
"cds_end": null,
"cds_length": 2943,
"cds_start": 2125,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000299886.9",
"gene_hgnc_id": 6545,
"gene_symbol": "COG1",
"hgvs_c": "c.2125G>A",
"hgvs_p": "p.Val709Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018714.3",
"protein_coding": true,
"protein_id": "ENSP00000299886.4",
"strand": true,
"transcript": "ENST00000299886.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 961,
"aa_ref": "V",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4051,
"cdna_start": 2123,
"cds_end": null,
"cds_length": 2886,
"cds_start": 2122,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000438720.7",
"gene_hgnc_id": 6545,
"gene_symbol": "COG1",
"hgvs_c": "c.2122G>A",
"hgvs_p": "p.Val708Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400111.3",
"strand": true,
"transcript": "ENST00000438720.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 978,
"aa_ref": "V",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3025,
"cdna_start": 2151,
"cds_end": null,
"cds_length": 2937,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000923183.1",
"gene_hgnc_id": 6545,
"gene_symbol": "COG1",
"hgvs_c": "c.2119G>A",
"hgvs_p": "p.Val707Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593242.1",
"strand": true,
"transcript": "ENST00000923183.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 972,
"aa_ref": "V",
"aa_start": 701,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3921,
"cdna_start": 2132,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2101,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876963.1",
"gene_hgnc_id": 6545,
"gene_symbol": "COG1",
"hgvs_c": "c.2101G>A",
"hgvs_p": "p.Val701Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547022.1",
"strand": true,
"transcript": "ENST00000876963.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 934,
"aa_ref": "V",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2880,
"cdna_start": 2006,
"cds_end": null,
"cds_length": 2805,
"cds_start": 1987,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876965.1",
"gene_hgnc_id": 6545,
"gene_symbol": "COG1",
"hgvs_c": "c.1987G>A",
"hgvs_p": "p.Val663Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547024.1",
"strand": true,
"transcript": "ENST00000876965.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 926,
"aa_ref": "V",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2851,
"cdna_start": 2139,
"cds_end": null,
"cds_length": 2781,
"cds_start": 2125,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000947885.1",
"gene_hgnc_id": 6545,
"gene_symbol": "COG1",
"hgvs_c": "c.2125G>A",
"hgvs_p": "p.Val709Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617944.1",
"strand": true,
"transcript": "ENST00000947885.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 856,
"aa_ref": "V",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2654,
"cdna_start": 1784,
"cds_end": null,
"cds_length": 2571,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000947884.1",
"gene_hgnc_id": 6545,
"gene_symbol": "COG1",
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Val585Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617943.1",
"strand": true,
"transcript": "ENST00000947884.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 743,
"aa_ref": "V",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2307,
"cdna_start": 1436,
"cds_end": null,
"cds_length": 2232,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000876964.1",
"gene_hgnc_id": 6545,
"gene_symbol": "COG1",
"hgvs_c": "c.1414G>A",
"hgvs_p": "p.Val472Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547023.1",
"strand": true,
"transcript": "ENST00000876964.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 464,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000613523.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000277728",
"hgvs_c": "n.381C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000613523.1",
"transcript_support_level": 6
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs193920973",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 6545,
"gene_symbol": "COG1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"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": "Prostate cancer",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.246,
"pos": 73203051,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.071,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.03999999910593033,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.04,
"transcript": "NM_018714.3"
}
]
}