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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: 1-27897688-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=27897688&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 27897688,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001297558.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA2",
"gene_hgnc_id": 10290,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "NM_002946.5",
"protein_id": "NP_002937.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 270,
"cds_start": 353,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373912.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002946.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA2",
"gene_hgnc_id": 10290,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Ile",
"transcript": "ENST00000373912.8",
"protein_id": "ENSP00000363021.3",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 270,
"cds_start": 353,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002946.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373912.8"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA2",
"gene_hgnc_id": 10290,
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Thr206Ile",
"transcript": "ENST00000313433.11",
"protein_id": "ENSP00000363015.3",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 358,
"cds_start": 617,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313433.11"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA2",
"gene_hgnc_id": 10290,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Thr133Ile",
"transcript": "ENST00000935486.1",
"protein_id": "ENSP00000605545.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 285,
"cds_start": 398,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935486.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA2",
"gene_hgnc_id": 10290,
"hgvs_c": "c.377C>T",
"hgvs_p": "p.Thr126Ile",
"transcript": "NM_001297558.1",
"protein_id": "NP_001284487.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 278,
"cds_start": 377,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297558.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA2",
"gene_hgnc_id": 10290,
"hgvs_c": "c.377C>T",
"hgvs_p": "p.Thr126Ile",
"transcript": "ENST00000373909.7",
"protein_id": "ENSP00000363017.3",
"transcript_support_level": 3,
"aa_start": 126,
"aa_end": null,
"aa_length": 278,
"cds_start": 377,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373909.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA2",
"gene_hgnc_id": 10290,
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Thr122Ile",
"transcript": "NM_001355129.2",
"protein_id": "NP_001342058.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 274,
"cds_start": 365,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355129.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA2",
"gene_hgnc_id": 10290,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Thr80Ile",
"transcript": "ENST00000882506.1",
"protein_id": "ENSP00000552565.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 232,
"cds_start": 239,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882506.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA2",
"gene_hgnc_id": 10290,
"hgvs_c": "c.137C>T",
"hgvs_p": "p.Thr46Ile",
"transcript": "ENST00000882507.1",
"protein_id": "ENSP00000552566.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 198,
"cds_start": 137,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882507.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA2",
"gene_hgnc_id": 10290,
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Thr122Ile",
"transcript": "ENST00000444045.1",
"protein_id": "ENSP00000387649.1",
"transcript_support_level": 5,
"aa_start": 122,
"aa_end": null,
"aa_length": 178,
"cds_start": 365,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444045.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA2",
"gene_hgnc_id": 10290,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Thr22Ile",
"transcript": "NM_001286076.2",
"protein_id": "NP_001273005.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 174,
"cds_start": 65,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286076.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA2",
"gene_hgnc_id": 10290,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Thr22Ile",
"transcript": "NM_001355128.2",
"protein_id": "NP_001342057.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 174,
"cds_start": 65,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355128.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPA2",
"gene_hgnc_id": 10290,
"hgvs_c": "c.334-567C>T",
"hgvs_p": null,
"transcript": "ENST00000882504.1",
"protein_id": "ENSP00000552563.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882504.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPA2",
"gene_hgnc_id": 10290,
"hgvs_c": "c.346-3291C>T",
"hgvs_p": null,
"transcript": "ENST00000935485.1",
"protein_id": "ENSP00000605544.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935485.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPA2",
"gene_hgnc_id": 10290,
"hgvs_c": "c.334-3291C>T",
"hgvs_p": null,
"transcript": "ENST00000882505.1",
"protein_id": "ENSP00000552564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 206,
"cds_start": null,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882505.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPA2",
"gene_hgnc_id": 10290,
"hgvs_c": "c.358-567C>T",
"hgvs_p": null,
"transcript": "XM_024448862.2",
"protein_id": "XP_024304630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": null,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448862.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPA2",
"gene_hgnc_id": 10290,
"hgvs_c": "c.334-567C>T",
"hgvs_p": null,
"transcript": "XM_024448864.2",
"protein_id": "XP_024304632.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448864.2"
}
],
"gene_symbol": "RPA2",
"gene_hgnc_id": 10290,
"dbsnp": "rs758110434",
"frequency_reference_population": 0.000028124367,
"hom_count_reference_population": 0,
"allele_count_reference_population": 45,
"gnomad_exomes_af": 0.0000303903,
"gnomad_genomes_af": 0.00000657013,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07513520121574402,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.1119,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.244,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001297558.1",
"gene_symbol": "RPA2",
"hgnc_id": 10290,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.377C>T",
"hgvs_p": "p.Thr126Ile"
}
],
"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
}