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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: 16-28951184-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=28951184&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 28951184,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032815.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFATC2IP",
"gene_hgnc_id": 25906,
"hgvs_c": "c.173T>C",
"hgvs_p": "p.Ile58Thr",
"transcript": "NM_032815.4",
"protein_id": "NP_116204.3",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 419,
"cds_start": 173,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 4564,
"mane_select": "ENST00000320805.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032815.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFATC2IP",
"gene_hgnc_id": 25906,
"hgvs_c": "c.173T>C",
"hgvs_p": "p.Ile58Thr",
"transcript": "ENST00000320805.9",
"protein_id": "ENSP00000324792.4",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 419,
"cds_start": 173,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 4564,
"mane_select": "NM_032815.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320805.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFATC2IP",
"gene_hgnc_id": 25906,
"hgvs_c": "c.-65+350T>C",
"hgvs_p": null,
"transcript": "ENST00000564978.5",
"protein_id": "ENSP00000456948.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": null,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564978.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFATC2IP",
"gene_hgnc_id": 25906,
"hgvs_c": "c.173T>C",
"hgvs_p": "p.Ile58Thr",
"transcript": "NM_001394784.1",
"protein_id": "NP_001381713.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 392,
"cds_start": 173,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 4483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394784.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "NFATC2IP",
"gene_hgnc_id": 25906,
"hgvs_c": "c.173T>C",
"hgvs_p": "p.Ile58Thr",
"transcript": "NM_001394785.1",
"protein_id": "NP_001381714.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 334,
"cds_start": 173,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394785.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "NFATC2IP",
"gene_hgnc_id": 25906,
"hgvs_c": "c.173T>C",
"hgvs_p": "p.Ile58Thr",
"transcript": "ENST00000895633.1",
"protein_id": "ENSP00000565692.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 334,
"cds_start": 173,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 3614,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895633.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFATC2IP",
"gene_hgnc_id": 25906,
"hgvs_c": "c.173T>C",
"hgvs_p": "p.Ile58Thr",
"transcript": "NM_001394786.1",
"protein_id": "NP_001381715.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 242,
"cds_start": 173,
"cds_end": null,
"cds_length": 729,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 4033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394786.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFATC2IP",
"gene_hgnc_id": 25906,
"hgvs_c": "c.173T>C",
"hgvs_p": "p.Ile58Thr",
"transcript": "ENST00000895632.1",
"protein_id": "ENSP00000565691.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 242,
"cds_start": 173,
"cds_end": null,
"cds_length": 729,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 3494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895632.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFATC2IP",
"gene_hgnc_id": 25906,
"hgvs_c": "n.178T>C",
"hgvs_p": null,
"transcript": "ENST00000562977.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 638,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000562977.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFATC2IP",
"gene_hgnc_id": 25906,
"hgvs_c": "n.178T>C",
"hgvs_p": null,
"transcript": "ENST00000565752.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 823,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000565752.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFATC2IP",
"gene_hgnc_id": 25906,
"hgvs_c": "n.248T>C",
"hgvs_p": null,
"transcript": "NR_172207.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4296,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_172207.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFATC2IP",
"gene_hgnc_id": 25906,
"hgvs_c": "n.64+133T>C",
"hgvs_p": null,
"transcript": "ENST00000565919.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 576,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000565919.1"
}
],
"gene_symbol": "NFATC2IP",
"gene_hgnc_id": 25906,
"dbsnp": "rs1020176693",
"frequency_reference_population": 0.000027356433,
"hom_count_reference_population": 0,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.0000273564,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02596646547317505,
"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": 0.303,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.256,
"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_032815.4",
"gene_symbol": "NFATC2IP",
"hgnc_id": 25906,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.173T>C",
"hgvs_p": "p.Ile58Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}