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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: 17-7317366-AGT-GGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7317366&ref=AGT&alt=GGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "NEURL4",
"hgnc_id": 34410,
"hgvs_c": "c.4321_4323delACTinsTCC",
"hgvs_p": "p.Thr1441Ser",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_032442.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000261915",
"hgnc_id": null,
"hgvs_c": "n.760_762delACTinsTCC",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000575474.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1562,
"aa_ref": "T",
"aa_start": 1441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5207,
"cdna_start": 4346,
"cds_end": null,
"cds_length": 4689,
"cds_start": 4321,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032442.3",
"gene_hgnc_id": 34410,
"gene_symbol": "NEURL4",
"hgvs_c": "c.4321_4323delACTinsTCC",
"hgvs_p": "p.Thr1441Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000399464.7",
"protein_coding": true,
"protein_id": "NP_115818.2",
"strand": false,
"transcript": "NM_032442.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1562,
"aa_ref": "T",
"aa_start": 1441,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5207,
"cdna_start": 4346,
"cds_end": null,
"cds_length": 4689,
"cds_start": 4321,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000399464.7",
"gene_hgnc_id": 34410,
"gene_symbol": "NEURL4",
"hgvs_c": "c.4321_4323delACTinsTCC",
"hgvs_p": "p.Thr1441Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032442.3",
"protein_coding": true,
"protein_id": "ENSP00000382390.2",
"strand": false,
"transcript": "ENST00000399464.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1560,
"aa_ref": "T",
"aa_start": 1439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5182,
"cdna_start": 4321,
"cds_end": null,
"cds_length": 4683,
"cds_start": 4315,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000315614.11",
"gene_hgnc_id": 34410,
"gene_symbol": "NEURL4",
"hgvs_c": "c.4315_4317delACTinsTCC",
"hgvs_p": "p.Thr1439Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000319826.7",
"strand": false,
"transcript": "ENST00000315614.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 2571,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000575474.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000261915",
"hgvs_c": "n.760_762delACTinsTCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000468772.1",
"strand": false,
"transcript": "ENST00000575474.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1599,
"aa_ref": "T",
"aa_start": 1478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5292,
"cdna_start": 4438,
"cds_end": null,
"cds_length": 4800,
"cds_start": 4432,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000948436.1",
"gene_hgnc_id": 34410,
"gene_symbol": "NEURL4",
"hgvs_c": "c.4432_4434delACTinsTCC",
"hgvs_p": "p.Thr1478Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618495.1",
"strand": false,
"transcript": "ENST00000948436.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1560,
"aa_ref": "T",
"aa_start": 1439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5201,
"cdna_start": 4340,
"cds_end": null,
"cds_length": 4683,
"cds_start": 4315,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001005408.2",
"gene_hgnc_id": 34410,
"gene_symbol": "NEURL4",
"hgvs_c": "c.4315_4317delACTinsTCC",
"hgvs_p": "p.Thr1439Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005408.1",
"strand": false,
"transcript": "NM_001005408.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1556,
"aa_ref": "T",
"aa_start": 1435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5242,
"cdna_start": 4386,
"cds_end": null,
"cds_length": 4671,
"cds_start": 4303,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000906086.1",
"gene_hgnc_id": 34410,
"gene_symbol": "NEURL4",
"hgvs_c": "c.4303_4305delACTinsTCC",
"hgvs_p": "p.Thr1435Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576145.1",
"strand": false,
"transcript": "ENST00000906086.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1538,
"aa_ref": "T",
"aa_start": 1417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4890,
"cdna_start": 4332,
"cds_end": null,
"cds_length": 4617,
"cds_start": 4249,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000570460.5",
"gene_hgnc_id": 34410,
"gene_symbol": "NEURL4",
"hgvs_c": "c.4249_4251delACTinsTCC",
"hgvs_p": "p.Thr1417Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459978.1",
"strand": false,
"transcript": "ENST00000570460.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1428,
"aa_ref": "T",
"aa_start": 1403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4291,
"cdna_start": 4211,
"cds_end": null,
"cds_length": 4289,
"cds_start": 4207,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000571887.5",
"gene_hgnc_id": 34410,
"gene_symbol": "NEURL4",
"hgvs_c": "c.4207_4209delACTinsTCC",
"hgvs_p": "p.Thr1403Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458469.1",
"strand": false,
"transcript": "ENST00000571887.5",
"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": 2349,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000315601.8",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000261915",
"hgvs_c": "n.661_663delACTinsTCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000468744.1",
"strand": false,
"transcript": "ENST00000315601.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 819,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000572680.1",
"gene_hgnc_id": 34410,
"gene_symbol": "NEURL4",
"hgvs_c": "n.451_453delACTinsTCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000572680.1",
"transcript_support_level": 2
},
{
"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": 4431,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000573186.5",
"gene_hgnc_id": 34410,
"gene_symbol": "NEURL4",
"hgvs_c": "n.*519_*521delACTinsTCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000460062.1",
"strand": false,
"transcript": "ENST00000573186.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 936,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000574120.1",
"gene_hgnc_id": 34410,
"gene_symbol": "NEURL4",
"hgvs_c": "n.815_817delACTinsTCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000574120.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 833,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000576794.5",
"gene_hgnc_id": 34410,
"gene_symbol": "NEURL4",
"hgvs_c": "n.672_674delACTinsTCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000576794.5",
"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": 4431,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000573186.5",
"gene_hgnc_id": 34410,
"gene_symbol": "NEURL4",
"hgvs_c": "n.*519_*521delACTinsTCC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000460062.1",
"strand": false,
"transcript": "ENST00000573186.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 34410,
"gene_symbol": "NEURL4",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.311,
"pos": 7317366,
"ref": "AGT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_032442.3"
}
]
}