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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: 16-2029730-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2029730&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 2029730,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001130012.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"transcript": "NM_001130012.3",
"protein_id": "NP_001123484.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 337,
"cds_start": 362,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000424542.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130012.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"transcript": "ENST00000424542.7",
"protein_id": "ENSP00000408005.2",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 337,
"cds_start": 362,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001130012.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424542.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"transcript": "ENST00000432365.6",
"protein_id": "ENSP00000402857.2",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 326,
"cds_start": 362,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432365.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"transcript": "ENST00000901526.1",
"protein_id": "ENSP00000571585.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 346,
"cds_start": 362,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901526.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"transcript": "ENST00000901525.1",
"protein_id": "ENSP00000571584.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 333,
"cds_start": 362,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901525.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"transcript": "NM_004785.6",
"protein_id": "NP_004776.3",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 326,
"cds_start": 362,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004785.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"transcript": "ENST00000960133.1",
"protein_id": "ENSP00000630192.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 325,
"cds_start": 362,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960133.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"transcript": "ENST00000960134.1",
"protein_id": "ENSP00000630193.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 322,
"cds_start": 362,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960134.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"transcript": "ENST00000901524.1",
"protein_id": "ENSP00000571583.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 277,
"cds_start": 362,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901524.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"transcript": "ENST00000960135.1",
"protein_id": "ENSP00000630194.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 266,
"cds_start": 362,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960135.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Pro15Leu",
"transcript": "ENST00000563587.5",
"protein_id": "ENSP00000455909.1",
"transcript_support_level": 2,
"aa_start": 15,
"aa_end": null,
"aa_length": 231,
"cds_start": 44,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563587.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Pro112Leu",
"transcript": "ENST00000567504.5",
"protein_id": "ENSP00000454361.1",
"transcript_support_level": 3,
"aa_start": 112,
"aa_end": null,
"aa_length": 150,
"cds_start": 335,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567504.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"transcript": "XM_047434923.1",
"protein_id": "XP_047290879.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 294,
"cds_start": 362,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434923.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.44C>T",
"hgvs_p": "p.Pro15Leu",
"transcript": "XM_047434924.1",
"protein_id": "XP_047290880.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 231,
"cds_start": 44,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434924.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.-26C>T",
"hgvs_p": null,
"transcript": "ENST00000561844.5",
"protein_id": "ENSP00000457755.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": null,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561844.5"
}
],
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"dbsnp": "rs774643224",
"frequency_reference_population": 0.00004821768,
"hom_count_reference_population": 0,
"allele_count_reference_population": 75,
"gnomad_exomes_af": 0.0000285071,
"gnomad_genomes_af": 0.000229828,
"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": 35,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.047962576150894165,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.022,
"revel_prediction": "Benign",
"alphamissense_score": 0.0782,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.237,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001130012.3",
"gene_symbol": "NHERF2",
"hgnc_id": 11076,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}