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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: 7-43788022-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=43788022&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 43788022,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000265523.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLVRA",
"gene_hgnc_id": 1062,
"hgvs_c": "c.131C>G",
"hgvs_p": "p.Ser44Trp",
"transcript": "NM_000712.4",
"protein_id": "NP_000703.2",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 296,
"cds_start": 131,
"cds_end": null,
"cds_length": 891,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 1074,
"mane_select": "ENST00000265523.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLVRA",
"gene_hgnc_id": 1062,
"hgvs_c": "c.131C>G",
"hgvs_p": "p.Ser44Trp",
"transcript": "ENST00000265523.9",
"protein_id": "ENSP00000265523.4",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 296,
"cds_start": 131,
"cds_end": null,
"cds_length": 891,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 1074,
"mane_select": "NM_000712.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLVRA",
"gene_hgnc_id": 1062,
"hgvs_c": "c.131C>G",
"hgvs_p": "p.Ser44Trp",
"transcript": "NM_001253823.2",
"protein_id": "NP_001240752.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 296,
"cds_start": 131,
"cds_end": null,
"cds_length": 891,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 1168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLVRA",
"gene_hgnc_id": 1062,
"hgvs_c": "c.131C>G",
"hgvs_p": "p.Ser44Trp",
"transcript": "ENST00000402924.5",
"protein_id": "ENSP00000385757.1",
"transcript_support_level": 2,
"aa_start": 44,
"aa_end": null,
"aa_length": 296,
"cds_start": 131,
"cds_end": null,
"cds_length": 891,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 1161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLVRA",
"gene_hgnc_id": 1062,
"hgvs_c": "c.131C>G",
"hgvs_p": "p.Ser44Trp",
"transcript": "ENST00000424330.1",
"protein_id": "ENSP00000412005.1",
"transcript_support_level": 3,
"aa_start": 44,
"aa_end": null,
"aa_length": 101,
"cds_start": 131,
"cds_end": null,
"cds_length": 307,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLVRA",
"gene_hgnc_id": 1062,
"hgvs_c": "c.131C>G",
"hgvs_p": "p.Ser44Trp",
"transcript": "XM_011515474.3",
"protein_id": "XP_011513776.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 296,
"cds_start": 131,
"cds_end": null,
"cds_length": 891,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 1114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLVRA",
"gene_hgnc_id": 1062,
"hgvs_c": "c.131C>G",
"hgvs_p": "p.Ser44Trp",
"transcript": "XM_017012520.3",
"protein_id": "XP_016868009.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 296,
"cds_start": 131,
"cds_end": null,
"cds_length": 891,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 1120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLVRA",
"gene_hgnc_id": 1062,
"hgvs_c": "c.131C>G",
"hgvs_p": "p.Ser44Trp",
"transcript": "XM_024446867.2",
"protein_id": "XP_024302635.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 296,
"cds_start": 131,
"cds_end": null,
"cds_length": 891,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 1163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLVRA",
"gene_hgnc_id": 1062,
"hgvs_c": "n.155C>G",
"hgvs_p": null,
"transcript": "ENST00000453612.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BLVRA",
"gene_hgnc_id": 1062,
"dbsnp": "rs387906596",
"frequency_reference_population": 6.840507e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84051e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7789267301559448,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.423,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7965,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.122,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.13,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000265523.9",
"gene_symbol": "BLVRA",
"hgnc_id": 1062,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.131C>G",
"hgvs_p": "p.Ser44Trp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}