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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: 2-164508472-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=164508472&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 164508472,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000263915.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Ala336Thr",
"transcript": "NM_004490.3",
"protein_id": "NP_004481.2",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 540,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 2415,
"mane_select": "ENST00000263915.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Ala336Thr",
"transcript": "ENST00000263915.8",
"protein_id": "ENSP00000263915.3",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 540,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 2415,
"mane_select": "NM_004490.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Ala291Thr",
"transcript": "ENST00000446413.6",
"protein_id": "ENSP00000416786.2",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 414,
"cds_start": 871,
"cds_end": null,
"cds_length": 1247,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 1435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Ala249Thr",
"transcript": "NM_001303422.2",
"protein_id": "NP_001290351.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 453,
"cds_start": 745,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Ala249Thr",
"transcript": "ENST00000696453.2",
"protein_id": "ENSP00000512640.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 453,
"cds_start": 745,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Ala136Thr",
"transcript": "XM_047444013.1",
"protein_id": "XP_047299969.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 340,
"cds_start": 406,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 1975,
"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": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "n.1142G>A",
"hgvs_p": null,
"transcript": "ENST00000488342.5",
"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": 1983,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "n.1232G>A",
"hgvs_p": null,
"transcript": "XR_427085.4",
"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": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.*48G>A",
"hgvs_p": null,
"transcript": "XM_047444014.1",
"protein_id": "XP_047299970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": -4,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "n.*191G>A",
"hgvs_p": null,
"transcript": "ENST00000469573.1",
"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": 984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.*171G>A",
"hgvs_p": null,
"transcript": "XM_011511022.2",
"protein_id": "XP_011509324.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 312,
"cds_start": -4,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"dbsnp": "rs368925193",
"frequency_reference_population": 0.0000105342215,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000102624,
"gnomad_genomes_af": 0.0000131456,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9022825956344604,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.753,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4882,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.184,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000263915.8",
"gene_symbol": "GRB14",
"hgnc_id": 4565,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Ala336Thr"
}
],
"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
}