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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: 16-2029618-CGG-GGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2029618&ref=CGG&alt=GGT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "NHERF2",
"hgnc_id": 11076,
"hgvs_c": "c.250_252delCGGinsGGT",
"hgvs_p": "p.Arg84Gly",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001130012.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"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": "G",
"aa_end": null,
"aa_length": 337,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2160,
"cdna_start": 354,
"cds_end": null,
"cds_length": 1014,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001130012.3",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.250_252delCGGinsGGT",
"hgvs_p": "p.Arg84Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000424542.7",
"protein_coding": true,
"protein_id": "NP_001123484.1",
"strand": true,
"transcript": "NM_001130012.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 337,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2160,
"cdna_start": 354,
"cds_end": null,
"cds_length": 1014,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000424542.7",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.250_252delCGGinsGGT",
"hgvs_p": "p.Arg84Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001130012.3",
"protein_coding": true,
"protein_id": "ENSP00000408005.2",
"strand": true,
"transcript": "ENST00000424542.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 326,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1564,
"cdna_start": 328,
"cds_end": null,
"cds_length": 981,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000432365.6",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.250_252delCGGinsGGT",
"hgvs_p": "p.Arg84Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402857.2",
"strand": true,
"transcript": "ENST00000432365.6",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 346,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1639,
"cdna_start": 354,
"cds_end": null,
"cds_length": 1041,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901526.1",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.250_252delCGGinsGGT",
"hgvs_p": "p.Arg84Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571585.1",
"strand": true,
"transcript": "ENST00000901526.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 333,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1617,
"cdna_start": 367,
"cds_end": null,
"cds_length": 1002,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901525.1",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.250_252delCGGinsGGT",
"hgvs_p": "p.Arg84Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571584.1",
"strand": true,
"transcript": "ENST00000901525.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 326,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2127,
"cdna_start": 354,
"cds_end": null,
"cds_length": 981,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004785.6",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.250_252delCGGinsGGT",
"hgvs_p": "p.Arg84Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004776.3",
"strand": true,
"transcript": "NM_004785.6",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 325,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1615,
"cdna_start": 387,
"cds_end": null,
"cds_length": 978,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960133.1",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.250_252delCGGinsGGT",
"hgvs_p": "p.Arg84Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630192.1",
"strand": true,
"transcript": "ENST00000960133.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 322,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1581,
"cdna_start": 364,
"cds_end": null,
"cds_length": 969,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960134.1",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.250_252delCGGinsGGT",
"hgvs_p": "p.Arg84Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630193.1",
"strand": true,
"transcript": "ENST00000960134.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 277,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1485,
"cdna_start": 403,
"cds_end": null,
"cds_length": 834,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901524.1",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.250_252delCGGinsGGT",
"hgvs_p": "p.Arg84Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571583.1",
"strand": true,
"transcript": "ENST00000901524.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 266,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1411,
"cdna_start": 365,
"cds_end": null,
"cds_length": 801,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960135.1",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.250_252delCGGinsGGT",
"hgvs_p": "p.Arg84Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630194.1",
"strand": true,
"transcript": "ENST00000960135.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 150,
"aa_ref": "R",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 578,
"cdna_start": 348,
"cds_end": null,
"cds_length": 453,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000567504.5",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.223_225delCGGinsGGT",
"hgvs_p": "p.Arg75Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454361.1",
"strand": true,
"transcript": "ENST00000567504.5",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 294,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": 354,
"cds_end": null,
"cds_length": 885,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047434923.1",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.250_252delCGGinsGGT",
"hgvs_p": "p.Arg84Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290879.1",
"strand": true,
"transcript": "XM_047434923.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 231,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1037,
"cdna_start": null,
"cds_end": null,
"cds_length": 696,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000563587.5",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.-69_-67delCGGinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455909.1",
"strand": true,
"transcript": "ENST00000563587.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 231,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1864,
"cdna_start": null,
"cds_end": null,
"cds_length": 696,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047434924.1",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.-69_-67delCGGinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290880.1",
"strand": true,
"transcript": "XM_047434924.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 165,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 738,
"cdna_start": null,
"cds_end": null,
"cds_length": 498,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000561844.5",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.-138_-136delCGGinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457755.1",
"strand": true,
"transcript": "ENST00000561844.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"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": 1.045,
"pos": 2029618,
"ref": "CGG",
"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_001130012.3"
}
]
}