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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: 17-7317475-CCTCGGTCCAGCACT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7317475&ref=CCTCGGTCCAGCACT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7317475,
"ref": "CCTCGGTCCAGCACT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_032442.3",
"consequences": [
{
"aa_ref": "RVLDRG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEURL4",
"gene_hgnc_id": 34410,
"hgvs_c": "c.4290_4303delAGTGCTGGACCGAG",
"hgvs_p": "p.Val1431fs",
"transcript": "NM_032442.3",
"protein_id": "NP_115818.2",
"transcript_support_level": null,
"aa_start": 1430,
"aa_end": null,
"aa_length": 1562,
"cds_start": 4290,
"cds_end": null,
"cds_length": 4689,
"cdna_start": 4326,
"cdna_end": null,
"cdna_length": 5207,
"mane_select": "ENST00000399464.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RVLDRG",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEURL4",
"gene_hgnc_id": 34410,
"hgvs_c": "c.4290_4303delAGTGCTGGACCGAG",
"hgvs_p": "p.Val1431fs",
"transcript": "ENST00000399464.7",
"protein_id": "ENSP00000382390.2",
"transcript_support_level": 1,
"aa_start": 1430,
"aa_end": null,
"aa_length": 1562,
"cds_start": 4290,
"cds_end": null,
"cds_length": 4689,
"cdna_start": 4326,
"cdna_end": null,
"cdna_length": 5207,
"mane_select": "NM_032442.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RVLDRG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEURL4",
"gene_hgnc_id": 34410,
"hgvs_c": "c.4284_4297delAGTGCTGGACCGAG",
"hgvs_p": "p.Val1429fs",
"transcript": "ENST00000315614.11",
"protein_id": "ENSP00000319826.7",
"transcript_support_level": 1,
"aa_start": 1428,
"aa_end": null,
"aa_length": 1560,
"cds_start": 4284,
"cds_end": null,
"cds_length": 4683,
"cdna_start": 4301,
"cdna_end": null,
"cdna_length": 5182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261915",
"gene_hgnc_id": null,
"hgvs_c": "n.729_742delAGTGCTGGACCGAG",
"hgvs_p": null,
"transcript": "ENST00000575474.1",
"protein_id": "ENSP00000468772.1",
"transcript_support_level": 5,
"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": 2571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RVLDRG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEURL4",
"gene_hgnc_id": 34410,
"hgvs_c": "c.4284_4297delAGTGCTGGACCGAG",
"hgvs_p": "p.Val1429fs",
"transcript": "NM_001005408.2",
"protein_id": "NP_001005408.1",
"transcript_support_level": null,
"aa_start": 1428,
"aa_end": null,
"aa_length": 1560,
"cds_start": 4284,
"cds_end": null,
"cds_length": 4683,
"cdna_start": 4320,
"cdna_end": null,
"cdna_length": 5201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RVLDRG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEURL4",
"gene_hgnc_id": 34410,
"hgvs_c": "c.4218_4231delAGTGCTGGACCGAG",
"hgvs_p": "p.Val1407fs",
"transcript": "ENST00000570460.5",
"protein_id": "ENSP00000459978.1",
"transcript_support_level": 5,
"aa_start": 1406,
"aa_end": null,
"aa_length": 1538,
"cds_start": 4218,
"cds_end": null,
"cds_length": 4617,
"cdna_start": 4312,
"cdna_end": null,
"cdna_length": 4890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RVLDRG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEURL4",
"gene_hgnc_id": 34410,
"hgvs_c": "c.4176_4189delAGTGCTGGACCGAG",
"hgvs_p": "p.Val1393fs",
"transcript": "ENST00000571887.5",
"protein_id": "ENSP00000458469.1",
"transcript_support_level": 5,
"aa_start": 1392,
"aa_end": null,
"aa_length": 1428,
"cds_start": 4176,
"cds_end": null,
"cds_length": 4289,
"cdna_start": 4191,
"cdna_end": null,
"cdna_length": 4291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261915",
"gene_hgnc_id": null,
"hgvs_c": "n.630_643delAGTGCTGGACCGAG",
"hgvs_p": null,
"transcript": "ENST00000315601.8",
"protein_id": "ENSP00000468744.1",
"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": 2349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEURL4",
"gene_hgnc_id": 34410,
"hgvs_c": "n.420_433delAGTGCTGGACCGAG",
"hgvs_p": null,
"transcript": "ENST00000572680.1",
"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": 819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEURL4",
"gene_hgnc_id": 34410,
"hgvs_c": "n.*488_*501delAGTGCTGGACCGAG",
"hgvs_p": null,
"transcript": "ENST00000573186.5",
"protein_id": "ENSP00000460062.1",
"transcript_support_level": 5,
"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": 4431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEURL4",
"gene_hgnc_id": 34410,
"hgvs_c": "n.784_797delAGTGCTGGACCGAG",
"hgvs_p": null,
"transcript": "ENST00000574120.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEURL4",
"gene_hgnc_id": 34410,
"hgvs_c": "n.641_654delAGTGCTGGACCGAG",
"hgvs_p": null,
"transcript": "ENST00000576794.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEURL4",
"gene_hgnc_id": 34410,
"hgvs_c": "n.*488_*501delAGTGCTGGACCGAG",
"hgvs_p": null,
"transcript": "ENST00000573186.5",
"protein_id": "ENSP00000460062.1",
"transcript_support_level": 5,
"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": 4431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NEURL4",
"gene_hgnc_id": 34410,
"dbsnp": "rs2143011299",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.095,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_032442.3",
"gene_symbol": "NEURL4",
"hgnc_id": 34410,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.4290_4303delAGTGCTGGACCGAG",
"hgvs_p": "p.Val1431fs"
},
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000575474.1",
"gene_symbol": "ENSG00000261915",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.729_742delAGTGCTGGACCGAG",
"hgvs_p": null
}
],
"clinvar_disease": "NEURL4-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "NEURL4-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}