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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: 1-225920477-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=225920477&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 225920477,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_013328.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Ala314Val",
"transcript": "NM_013328.4",
"protein_id": "NP_037460.2",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 320,
"cds_start": 941,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000343818.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013328.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Ala314Val",
"transcript": "ENST00000343818.11",
"protein_id": "ENSP00000342502.6",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 320,
"cds_start": 941,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013328.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343818.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255835",
"gene_hgnc_id": null,
"hgvs_c": "c.575+731C>T",
"hgvs_p": null,
"transcript": "ENST00000432920.2",
"protein_id": "ENSP00000414068.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432920.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Ala313Val",
"transcript": "ENST00000872062.1",
"protein_id": "ENSP00000542121.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 319,
"cds_start": 938,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872062.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.938C>T",
"hgvs_p": "p.Ala313Val",
"transcript": "ENST00000872065.1",
"protein_id": "ENSP00000542124.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 319,
"cds_start": 938,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872065.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.935C>T",
"hgvs_p": "p.Ala312Val",
"transcript": "ENST00000931949.1",
"protein_id": "ENSP00000602007.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 318,
"cds_start": 935,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931949.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ala291Val",
"transcript": "ENST00000931947.1",
"protein_id": "ENSP00000602005.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 297,
"cds_start": 872,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931947.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Ala289Val",
"transcript": "ENST00000872071.1",
"protein_id": "ENSP00000542130.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 295,
"cds_start": 866,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872071.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"transcript": "ENST00000872063.1",
"protein_id": "ENSP00000542122.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 289,
"cds_start": 848,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872063.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.845C>T",
"hgvs_p": "p.Ala282Val",
"transcript": "ENST00000954487.1",
"protein_id": "ENSP00000624546.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 288,
"cds_start": 845,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954487.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.845C>T",
"hgvs_p": "p.Ala282Val",
"transcript": "ENST00000954488.1",
"protein_id": "ENSP00000624547.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 288,
"cds_start": 845,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954488.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.761C>T",
"hgvs_p": "p.Ala254Val",
"transcript": "ENST00000872068.1",
"protein_id": "ENSP00000542128.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 260,
"cds_start": 761,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872068.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Ala240Val",
"transcript": "NM_001271681.2",
"protein_id": "NP_001258610.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 246,
"cds_start": 719,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271681.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Ala240Val",
"transcript": "ENST00000612039.4",
"protein_id": "ENSP00000478165.1",
"transcript_support_level": 3,
"aa_start": 240,
"aa_end": null,
"aa_length": 246,
"cds_start": 719,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612039.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ala209Val",
"transcript": "ENST00000872070.1",
"protein_id": "ENSP00000542129.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 215,
"cds_start": 626,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872070.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ala180Val",
"transcript": "ENST00000872067.1",
"protein_id": "ENSP00000542125.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 186,
"cds_start": 539,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872067.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ala149Val",
"transcript": "ENST00000931948.1",
"protein_id": "ENSP00000602006.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 155,
"cds_start": 446,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931948.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"hgvs_c": "n.2550C>T",
"hgvs_p": null,
"transcript": "ENST00000478402.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000478402.5"
}
],
"gene_symbol": "PYCR2",
"gene_hgnc_id": 30262,
"dbsnp": "rs117063721",
"frequency_reference_population": 0.0000015209935,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000152099,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08415386080741882,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.14,
"revel_prediction": "Benign",
"alphamissense_score": 0.0773,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.492,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 2,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013328.4",
"gene_symbol": "PYCR2",
"hgnc_id": 30262,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Ala314Val"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000432920.2",
"gene_symbol": "ENSG00000255835",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.575+731C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}