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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: 7-22731420-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=22731420&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 22731420,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000258743.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6",
"gene_hgnc_id": 6018,
"hgvs_c": "c.486T>G",
"hgvs_p": "p.Asp162Glu",
"transcript": "NM_000600.5",
"protein_id": "NP_000591.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 212,
"cds_start": 486,
"cds_end": null,
"cds_length": 639,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 1127,
"mane_select": "ENST00000258743.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6",
"gene_hgnc_id": 6018,
"hgvs_c": "c.486T>G",
"hgvs_p": "p.Asp162Glu",
"transcript": "ENST00000258743.10",
"protein_id": "ENSP00000258743.5",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 212,
"cds_start": 486,
"cds_end": null,
"cds_length": 639,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 1127,
"mane_select": "NM_000600.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6",
"gene_hgnc_id": 6018,
"hgvs_c": "c.648T>G",
"hgvs_p": "p.Asp216Glu",
"transcript": "ENST00000485300.1",
"protein_id": "ENSP00000512964.1",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 266,
"cds_start": 648,
"cds_end": null,
"cds_length": 801,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "IL6",
"gene_hgnc_id": 6018,
"hgvs_c": "c.486T>G",
"hgvs_p": "p.Asp162Glu",
"transcript": "ENST00000404625.5",
"protein_id": "ENSP00000385675.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 212,
"cds_start": 486,
"cds_end": null,
"cds_length": 639,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 1527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6",
"gene_hgnc_id": 6018,
"hgvs_c": "c.417T>G",
"hgvs_p": "p.Asp139Glu",
"transcript": "NM_001371096.1",
"protein_id": "NP_001358025.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 189,
"cds_start": 417,
"cds_end": null,
"cds_length": 570,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 1058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6",
"gene_hgnc_id": 6018,
"hgvs_c": "c.417T>G",
"hgvs_p": "p.Asp139Glu",
"transcript": "ENST00000401630.7",
"protein_id": "ENSP00000384928.3",
"transcript_support_level": 5,
"aa_start": 139,
"aa_end": null,
"aa_length": 189,
"cds_start": 417,
"cds_end": null,
"cds_length": 570,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6",
"gene_hgnc_id": 6018,
"hgvs_c": "c.258T>G",
"hgvs_p": "p.Asp86Glu",
"transcript": "NM_001318095.2",
"protein_id": "NP_001305024.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 136,
"cds_start": 258,
"cds_end": null,
"cds_length": 411,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6",
"gene_hgnc_id": 6018,
"hgvs_c": "c.258T>G",
"hgvs_p": "p.Asp86Glu",
"transcript": "ENST00000407492.5",
"protein_id": "ENSP00000385043.1",
"transcript_support_level": 3,
"aa_start": 86,
"aa_end": null,
"aa_length": 136,
"cds_start": 258,
"cds_end": null,
"cds_length": 411,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL6",
"gene_hgnc_id": 6018,
"hgvs_c": "n.*218T>G",
"hgvs_p": null,
"transcript": "ENST00000464710.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 3319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IL6",
"gene_hgnc_id": 6018,
"dbsnp": "rs13306435",
"frequency_reference_population": 7.032982e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.03298e-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": 0.06264793872833252,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.04,
"revel_prediction": "Benign",
"alphamissense_score": 0.121,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.208,
"phylop100way_prediction": "Benign",
"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": "ENST00000258743.10",
"gene_symbol": "IL6",
"hgnc_id": 6018,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.486T>G",
"hgvs_p": "p.Asp162Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}