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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: 20-45969600-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=45969600&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 45969600,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000322927.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.293G>T",
"hgvs_p": "p.Gly98Val",
"transcript": "NM_022095.4",
"protein_id": "NP_071378.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 1342,
"cds_start": 293,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 4454,
"mane_select": "ENST00000322927.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.293G>T",
"hgvs_p": "p.Gly98Val",
"transcript": "ENST00000322927.3",
"protein_id": "ENSP00000325326.2",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 1342,
"cds_start": 293,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 4454,
"mane_select": "NM_022095.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.293G>T",
"hgvs_p": "p.Gly98Val",
"transcript": "XM_047440363.1",
"protein_id": "XP_047296319.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 1342,
"cds_start": 293,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 4803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.293G>T",
"hgvs_p": "p.Gly98Val",
"transcript": "XM_005260504.5",
"protein_id": "XP_005260561.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 1341,
"cds_start": 293,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 4800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.293G>T",
"hgvs_p": "p.Gly98Val",
"transcript": "XM_011528979.4",
"protein_id": "XP_011527281.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 910,
"cds_start": 293,
"cds_end": null,
"cds_length": 2733,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 3250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.293G>T",
"hgvs_p": "p.Gly98Val",
"transcript": "XM_047440364.1",
"protein_id": "XP_047296320.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 804,
"cds_start": 293,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 2993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.293G>T",
"hgvs_p": "p.Gly98Val",
"transcript": "XM_047440365.1",
"protein_id": "XP_047296321.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 791,
"cds_start": 293,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 2944,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "n.626G>T",
"hgvs_p": null,
"transcript": "ENST00000476822.1",
"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": 1370,
"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": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "n.774G>T",
"hgvs_p": null,
"transcript": "XR_936602.4",
"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": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"dbsnp": "rs34015709",
"frequency_reference_population": 6.867924e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86792e-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": 0.09576794505119324,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": 0.0965,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.964,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000322927.3",
"gene_symbol": "ZNF335",
"hgnc_id": 15807,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.293G>T",
"hgvs_p": "p.Gly98Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}