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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: 8-89924615-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=89924615&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 89924615,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001126111.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGIN2",
"gene_hgnc_id": 1355,
"hgvs_c": "c.733G>A",
"hgvs_p": "p.Val245Ile",
"transcript": "NM_001126111.3",
"protein_id": "NP_001119583.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 549,
"cds_start": 733,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000451899.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001126111.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGIN2",
"gene_hgnc_id": 1355,
"hgvs_c": "c.733G>A",
"hgvs_p": "p.Val245Ile",
"transcript": "ENST00000451899.7",
"protein_id": "ENSP00000396445.2",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 549,
"cds_start": 733,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001126111.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451899.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGIN2",
"gene_hgnc_id": 1355,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Val201Ile",
"transcript": "ENST00000297438.6",
"protein_id": "ENSP00000297438.2",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 505,
"cds_start": 601,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297438.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGIN2",
"gene_hgnc_id": 1355,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Ile",
"transcript": "ENST00000869563.1",
"protein_id": "ENSP00000539622.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 535,
"cds_start": 691,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869563.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGIN2",
"gene_hgnc_id": 1355,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Val201Ile",
"transcript": "NM_004337.2",
"protein_id": "NP_004328.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 505,
"cds_start": 601,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004337.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGIN2",
"gene_hgnc_id": 1355,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Val201Ile",
"transcript": "ENST00000647849.1",
"protein_id": "ENSP00000497119.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 505,
"cds_start": 601,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647849.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGIN2",
"gene_hgnc_id": 1355,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Val201Ile",
"transcript": "XM_011517287.4",
"protein_id": "XP_011515589.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 505,
"cds_start": 601,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517287.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGIN2",
"gene_hgnc_id": 1355,
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Val68Ile",
"transcript": "XM_011517288.4",
"protein_id": "XP_011515590.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 372,
"cds_start": 202,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517288.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.*765C>T",
"hgvs_p": null,
"transcript": "ENST00000697292.1",
"protein_id": "ENSP00000513229.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 754,
"cds_start": null,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697292.1"
}
],
"gene_symbol": "OSGIN2",
"gene_hgnc_id": 1355,
"dbsnp": "rs138873812",
"frequency_reference_population": 0.000019830375,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000171058,
"gnomad_genomes_af": 0.0000459951,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.051241934299468994,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.088,
"revel_prediction": "Benign",
"alphamissense_score": 0.0668,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.189,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001126111.3",
"gene_symbol": "OSGIN2",
"hgnc_id": 1355,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.733G>A",
"hgvs_p": "p.Val245Ile"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000697292.1",
"gene_symbol": "NBN",
"hgnc_id": 7652,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.*765C>T",
"hgvs_p": null
}
],
"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
}