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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: 8-143792020-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143792020&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SCRIB",
"hgnc_id": 30377,
"hgvs_c": "c.4628C>G",
"hgvs_p": "p.Ala1543Gly",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_182706.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.2616,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "8",
"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": 0.23872750997543335,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1655,
"aa_ref": "A",
"aa_start": 1543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5607,
"cdna_start": 5029,
"cds_end": null,
"cds_length": 4968,
"cds_start": 4628,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_182706.5",
"gene_hgnc_id": 30377,
"gene_symbol": "SCRIB",
"hgvs_c": "c.4628C>G",
"hgvs_p": "p.Ala1543Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356994.7",
"protein_coding": true,
"protein_id": "NP_874365.3",
"strand": false,
"transcript": "NM_182706.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1655,
"aa_ref": "A",
"aa_start": 1543,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5607,
"cdna_start": 5029,
"cds_end": null,
"cds_length": 4968,
"cds_start": 4628,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000356994.7",
"gene_hgnc_id": 30377,
"gene_symbol": "SCRIB",
"hgvs_c": "c.4628C>G",
"hgvs_p": "p.Ala1543Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_182706.5",
"protein_coding": true,
"protein_id": "ENSP00000349486.2",
"strand": false,
"transcript": "ENST00000356994.7",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1630,
"aa_ref": "A",
"aa_start": 1543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5143,
"cdna_start": 4635,
"cds_end": null,
"cds_length": 4893,
"cds_start": 4628,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000320476.7",
"gene_hgnc_id": 30377,
"gene_symbol": "SCRIB",
"hgvs_c": "c.4628C>G",
"hgvs_p": "p.Ala1543Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000322938.3",
"strand": false,
"transcript": "ENST00000320476.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1549,
"aa_ref": "A",
"aa_start": 1462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5108,
"cdna_start": 4606,
"cds_end": null,
"cds_length": 4650,
"cds_start": 4385,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000377533.7",
"gene_hgnc_id": 30377,
"gene_symbol": "SCRIB",
"hgvs_c": "c.4385C>G",
"hgvs_p": "p.Ala1462Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366756.3",
"strand": false,
"transcript": "ENST00000377533.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 649,
"aa_ref": "A",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2189,
"cdna_start": 1686,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1685,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000526832.5",
"gene_hgnc_id": 30377,
"gene_symbol": "SCRIB",
"hgvs_c": "c.1685C>G",
"hgvs_p": "p.Ala562Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431519.1",
"strand": false,
"transcript": "ENST00000526832.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000525051.5",
"gene_hgnc_id": 30377,
"gene_symbol": "SCRIB",
"hgvs_c": "n.1220C>G",
"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": "ENST00000525051.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1658,
"aa_ref": "A",
"aa_start": 1571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5227,
"cdna_start": 4719,
"cds_end": null,
"cds_length": 4977,
"cds_start": 4712,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000674084.1",
"gene_hgnc_id": 30377,
"gene_symbol": "SCRIB",
"hgvs_c": "c.4712C>G",
"hgvs_p": "p.Ala1571Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501177.1",
"strand": false,
"transcript": "ENST00000674084.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1630,
"aa_ref": "A",
"aa_start": 1543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5532,
"cdna_start": 5029,
"cds_end": null,
"cds_length": 4893,
"cds_start": 4628,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_015356.5",
"gene_hgnc_id": 30377,
"gene_symbol": "SCRIB",
"hgvs_c": "c.4628C>G",
"hgvs_p": "p.Ala1543Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056171.3",
"strand": false,
"transcript": "NM_015356.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1569,
"aa_ref": "A",
"aa_start": 1457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5302,
"cdna_start": 4723,
"cds_end": null,
"cds_length": 4710,
"cds_start": 4370,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000956152.1",
"gene_hgnc_id": 30377,
"gene_symbol": "SCRIB",
"hgvs_c": "c.4370C>G",
"hgvs_p": "p.Ala1457Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626211.1",
"strand": false,
"transcript": "ENST00000956152.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1567,
"aa_ref": "A",
"aa_start": 1480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5239,
"cdna_start": 4736,
"cds_end": null,
"cds_length": 4704,
"cds_start": 4439,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000921483.1",
"gene_hgnc_id": 30377,
"gene_symbol": "SCRIB",
"hgvs_c": "c.4439C>G",
"hgvs_p": "p.Ala1480Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591542.1",
"strand": false,
"transcript": "ENST00000921483.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1544,
"aa_ref": "A",
"aa_start": 1457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5205,
"cdna_start": 4702,
"cds_end": null,
"cds_length": 4635,
"cds_start": 4370,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000956153.1",
"gene_hgnc_id": 30377,
"gene_symbol": "SCRIB",
"hgvs_c": "c.4370C>G",
"hgvs_p": "p.Ala1457Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626212.1",
"strand": false,
"transcript": "ENST00000956153.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1537,
"aa_ref": "A",
"aa_start": 1450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5240,
"cdna_start": 4739,
"cds_end": null,
"cds_length": 4614,
"cds_start": 4349,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000956151.1",
"gene_hgnc_id": 30377,
"gene_symbol": "SCRIB",
"hgvs_c": "c.4349C>G",
"hgvs_p": "p.Ala1450Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626210.1",
"strand": false,
"transcript": "ENST00000956151.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs782539078",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 30377,
"gene_symbol": "SCRIB",
"gnomad_exomes_ac": 0,
"gnomad_exomes_af": 0,
"gnomad_exomes_homalt": 0,
"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": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.107,
"pos": 143792020,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.261,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_182706.5"
}
]
}