← Back to variant description
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: 2-232892987-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=232892987&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 232892987,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000264051.8",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NGEF",
"gene_hgnc_id": 7807,
"hgvs_c": "c.1053T>G",
"hgvs_p": "p.Ile351Met",
"transcript": "NM_019850.3",
"protein_id": "NP_062824.2",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 710,
"cds_start": 1053,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 3184,
"mane_select": "ENST00000264051.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NGEF",
"gene_hgnc_id": 7807,
"hgvs_c": "c.1053T>G",
"hgvs_p": "p.Ile351Met",
"transcript": "ENST00000264051.8",
"protein_id": "ENSP00000264051.3",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 710,
"cds_start": 1053,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 3184,
"mane_select": "NM_019850.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NGEF",
"gene_hgnc_id": 7807,
"hgvs_c": "c.777T>G",
"hgvs_p": "p.Ile259Met",
"transcript": "NM_001114090.2",
"protein_id": "NP_001107562.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 618,
"cds_start": 777,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NGEF",
"gene_hgnc_id": 7807,
"hgvs_c": "c.777T>G",
"hgvs_p": "p.Ile259Met",
"transcript": "ENST00000373552.8",
"protein_id": "ENSP00000362653.4",
"transcript_support_level": 2,
"aa_start": 259,
"aa_end": null,
"aa_length": 618,
"cds_start": 777,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 2286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NGEF",
"gene_hgnc_id": 7807,
"hgvs_c": "c.222T>G",
"hgvs_p": "p.Ile74Met",
"transcript": "ENST00000416114.3",
"protein_id": "ENSP00000401063.1",
"transcript_support_level": 3,
"aa_start": 74,
"aa_end": null,
"aa_length": 186,
"cds_start": 222,
"cds_end": null,
"cds_length": 563,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NGEF",
"gene_hgnc_id": 7807,
"hgvs_c": "c.1053T>G",
"hgvs_p": "p.Ile351Met",
"transcript": "XM_011510923.4",
"protein_id": "XP_011509225.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 710,
"cds_start": 1053,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NGEF",
"gene_hgnc_id": 7807,
"hgvs_c": "c.579T>G",
"hgvs_p": "p.Ile193Met",
"transcript": "XM_047443880.1",
"protein_id": "XP_047299836.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 552,
"cds_start": 579,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 2614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NGEF",
"gene_hgnc_id": 7807,
"hgvs_c": "c.222T>G",
"hgvs_p": "p.Ile74Met",
"transcript": "XM_011510924.2",
"protein_id": "XP_011509226.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 433,
"cds_start": 222,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 2275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NGEF",
"gene_hgnc_id": 7807,
"hgvs_c": "c.222T>G",
"hgvs_p": "p.Ile74Met",
"transcript": "XM_011510925.2",
"protein_id": "XP_011509227.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 433,
"cds_start": 222,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 2279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "NGEF",
"gene_hgnc_id": 7807,
"hgvs_c": "n.430T>G",
"hgvs_p": null,
"transcript": "ENST00000420650.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NGEF",
"gene_hgnc_id": 7807,
"dbsnp": "rs895432",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 6.84365e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6712424755096436,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.659,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4823,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.387,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000264051.8",
"gene_symbol": "NGEF",
"hgnc_id": 7807,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1053T>G",
"hgvs_p": "p.Ile351Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}