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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: 9-71862607-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=71862607&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 71862607,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_016014.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"transcript": "ENST00000377041.6",
"protein_id": "ENSP00000366240.2",
"transcript_support_level": 1,
"aa_start": 286,
"aa_end": null,
"aa_length": 293,
"cds_start": 856,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377041.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"transcript": "NM_016014.4",
"protein_id": "NP_057098.2",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 293,
"cds_start": 856,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016014.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"transcript": "XM_006717134.4",
"protein_id": "XP_006717197.2",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 293,
"cds_start": 856,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717134.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"transcript": "XM_017014787.3",
"protein_id": "XP_016870276.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 293,
"cds_start": 856,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014787.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"transcript": "XM_047423446.1",
"protein_id": "XP_047279402.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 293,
"cds_start": 856,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423446.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"hgvs_c": "c.676G>T",
"hgvs_p": "p.Val226Leu",
"transcript": "XM_047423447.1",
"protein_id": "XP_047279403.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 233,
"cds_start": 676,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423447.1"
}
],
"gene_symbol": "ABHD17B",
"gene_hgnc_id": 24278,
"dbsnp": "rs148748134",
"frequency_reference_population": 0.0000015811227,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 8.98665e-7,
"gnomad_genomes_af": 0.00000657194,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.060583293437957764,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.36000001430511475,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.013,
"revel_prediction": "Benign",
"alphamissense_score": 0.0983,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.315,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.59,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.0378085712688606,
"dbscsnv_ada_prediction": "Benign",
"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_016014.4",
"gene_symbol": "ABHD17B",
"hgnc_id": 24278,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}