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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: 19-55000769-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55000769&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 55000769,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000448584.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP2",
"gene_hgnc_id": 22948,
"hgvs_c": "c.3060C>A",
"hgvs_p": "p.Ile1020Ile",
"transcript": "NM_017852.5",
"protein_id": "NP_060322.1",
"transcript_support_level": null,
"aa_start": 1020,
"aa_end": null,
"aa_length": 1062,
"cds_start": 3060,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 3171,
"cdna_end": null,
"cdna_length": 3540,
"mane_select": "ENST00000448584.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP2",
"gene_hgnc_id": 22948,
"hgvs_c": "c.3060C>A",
"hgvs_p": "p.Ile1020Ile",
"transcript": "ENST00000448584.7",
"protein_id": "ENSP00000409370.2",
"transcript_support_level": 1,
"aa_start": 1020,
"aa_end": null,
"aa_length": 1062,
"cds_start": 3060,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 3171,
"cdna_end": null,
"cdna_length": 3540,
"mane_select": "NM_017852.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP2",
"gene_hgnc_id": 22948,
"hgvs_c": "c.3060C>A",
"hgvs_p": "p.Ile1020Ile",
"transcript": "ENST00000543010.5",
"protein_id": "ENSP00000445135.1",
"transcript_support_level": 1,
"aa_start": 1020,
"aa_end": null,
"aa_length": 1062,
"cds_start": 3060,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 3203,
"cdna_end": null,
"cdna_length": 3576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP2",
"gene_hgnc_id": 22948,
"hgvs_c": "c.3060C>A",
"hgvs_p": "p.Ile1020Ile",
"transcript": "NM_001174081.3",
"protein_id": "NP_001167552.1",
"transcript_support_level": null,
"aa_start": 1020,
"aa_end": null,
"aa_length": 1062,
"cds_start": 3060,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 3171,
"cdna_end": null,
"cdna_length": 3540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP2",
"gene_hgnc_id": 22948,
"hgvs_c": "c.3051C>A",
"hgvs_p": "p.Ile1017Ile",
"transcript": "NM_001348003.2",
"protein_id": "NP_001334932.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1059,
"cds_start": 3051,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 3162,
"cdna_end": null,
"cdna_length": 3531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP2",
"gene_hgnc_id": 22948,
"hgvs_c": "c.3051C>A",
"hgvs_p": "p.Ile1017Ile",
"transcript": "ENST00000263437.10",
"protein_id": "ENSP00000263437.6",
"transcript_support_level": 2,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1059,
"cds_start": 3051,
"cds_end": null,
"cds_length": 3180,
"cdna_start": 3130,
"cdna_end": null,
"cdna_length": 3496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP2",
"gene_hgnc_id": 22948,
"hgvs_c": "c.2994C>A",
"hgvs_p": "p.Ile998Ile",
"transcript": "NM_001174082.3",
"protein_id": "NP_001167553.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2994,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 3105,
"cdna_end": null,
"cdna_length": 3474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP2",
"gene_hgnc_id": 22948,
"hgvs_c": "c.2994C>A",
"hgvs_p": "p.Ile998Ile",
"transcript": "ENST00000339757.11",
"protein_id": "ENSP00000344074.7",
"transcript_support_level": 2,
"aa_start": 998,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2994,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 3053,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP2",
"gene_hgnc_id": 22948,
"hgvs_c": "c.2994C>A",
"hgvs_p": "p.Ile998Ile",
"transcript": "ENST00000537859.5",
"protein_id": "ENSP00000440601.1",
"transcript_support_level": 2,
"aa_start": 998,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2994,
"cds_end": null,
"cds_length": 3123,
"cdna_start": 3136,
"cdna_end": null,
"cdna_length": 3507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP2",
"gene_hgnc_id": 22948,
"hgvs_c": "c.2991C>A",
"hgvs_p": "p.Ile997Ile",
"transcript": "NM_001174083.2",
"protein_id": "NP_001167554.1",
"transcript_support_level": null,
"aa_start": 997,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2991,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 3102,
"cdna_end": null,
"cdna_length": 3471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP2",
"gene_hgnc_id": 22948,
"hgvs_c": "c.2991C>A",
"hgvs_p": "p.Ile997Ile",
"transcript": "ENST00000427260.6",
"protein_id": "ENSP00000402474.2",
"transcript_support_level": 2,
"aa_start": 997,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2991,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 3102,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP2",
"gene_hgnc_id": 22948,
"hgvs_c": "c.2988C>A",
"hgvs_p": "p.Ile996Ile",
"transcript": "ENST00000391721.8",
"protein_id": "ENSP00000375601.4",
"transcript_support_level": 2,
"aa_start": 996,
"aa_end": null,
"aa_length": 1038,
"cds_start": 2988,
"cds_end": null,
"cds_length": 3117,
"cdna_start": 3054,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP2",
"gene_hgnc_id": 22948,
"hgvs_c": "n.3371C>A",
"hgvs_p": null,
"transcript": "ENST00000540597.5",
"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": 3744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP2",
"gene_hgnc_id": 22948,
"hgvs_c": "n.1403C>A",
"hgvs_p": null,
"transcript": "ENST00000542755.1",
"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": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP2",
"gene_hgnc_id": 22948,
"hgvs_c": "n.3372C>A",
"hgvs_p": null,
"transcript": "NR_145325.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NLRP2",
"gene_hgnc_id": 22948,
"dbsnp": "rs12768",
"frequency_reference_population": 0.52396405,
"hom_count_reference_population": 224951,
"allele_count_reference_population": 843624,
"gnomad_exomes_af": 0.523642,
"gnomad_genomes_af": 0.527065,
"gnomad_exomes_ac": 763702,
"gnomad_genomes_ac": 79922,
"gnomad_exomes_homalt": 203294,
"gnomad_genomes_homalt": 21657,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7400000095367432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.558,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000448584.7",
"gene_symbol": "NLRP2",
"hgnc_id": 22948,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.3060C>A",
"hgvs_p": "p.Ile1020Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}