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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: 7-37850735-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=37850735&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4_Strong",
"BP7"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "NME8",
"hgnc_id": 16473,
"hgvs_c": "c.198C>T",
"hgvs_p": "p.Val66Val",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_016616.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000290149",
"hgnc_id": null,
"hgvs_c": "c.-109-6539C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000476620.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP7",
"acmg_score": -5,
"allele_count_reference_population": 27,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Primary ciliary dyskinesia 6",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6200000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 588,
"aa_ref": "V",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2308,
"cdna_start": 570,
"cds_end": null,
"cds_length": 1767,
"cds_start": 198,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_016616.5",
"gene_hgnc_id": 16473,
"gene_symbol": "NME8",
"hgvs_c": "c.198C>T",
"hgvs_p": "p.Val66Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000199447.9",
"protein_coding": true,
"protein_id": "NP_057700.3",
"strand": true,
"transcript": "NM_016616.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 588,
"aa_ref": "V",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2308,
"cdna_start": 570,
"cds_end": null,
"cds_length": 1767,
"cds_start": 198,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000199447.9",
"gene_hgnc_id": 16473,
"gene_symbol": "NME8",
"hgvs_c": "c.198C>T",
"hgvs_p": "p.Val66Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016616.5",
"protein_coding": true,
"protein_id": "ENSP00000199447.4",
"strand": true,
"transcript": "ENST00000199447.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 588,
"aa_ref": "V",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1879,
"cdna_start": 310,
"cds_end": null,
"cds_length": 1767,
"cds_start": 198,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000440017.5",
"gene_hgnc_id": 16473,
"gene_symbol": "NME8",
"hgvs_c": "c.198C>T",
"hgvs_p": "p.Val66Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397063.1",
"strand": true,
"transcript": "ENST00000440017.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 122,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 555,
"cdna_start": null,
"cds_end": null,
"cds_length": 369,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000476620.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000290149",
"hgvs_c": "c.-109-6539C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425858.1",
"strand": true,
"transcript": "ENST00000476620.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 149,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 561,
"cdna_start": null,
"cds_end": null,
"cds_length": 450,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000444718.5",
"gene_hgnc_id": 16473,
"gene_symbol": "NME8",
"hgvs_c": "c.33+436C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390596.1",
"strand": true,
"transcript": "ENST00000444718.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 114,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 473,
"cdna_start": null,
"cds_end": null,
"cds_length": 347,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000455500.5",
"gene_hgnc_id": 16473,
"gene_symbol": "NME8",
"hgvs_c": "c.33+436C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390047.1",
"strand": true,
"transcript": "ENST00000455500.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 495,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000426106.1",
"gene_hgnc_id": 16473,
"gene_symbol": "NME8",
"hgvs_c": "n.33+436C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000408841.1",
"strand": true,
"transcript": "ENST00000426106.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Benign",
"dbscsnv_ada_score": 0.000714228936645809,
"dbsnp": "rs748684004",
"effect": "splice_region_variant,synonymous_variant",
"frequency_reference_population": 0.000016832226,
"gene_hgnc_id": 16473,
"gene_symbol": "NME8",
"gnomad_exomes_ac": 22,
"gnomad_exomes_af": 0.0000151526,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 5,
"gnomad_genomes_af": 0.000032858,
"gnomad_genomes_homalt": 0,
"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": "Primary ciliary dyskinesia 6",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.187,
"pos": 37850735,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.13600000739097595,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.06,
"transcript": "NM_016616.5"
}
]
}