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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: 20-45953872-G-GTGGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=45953872&ref=G&alt=GTGGC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 45953872,
"ref": "G",
"alt": "GTGGC",
"effect": "frameshift_variant",
"transcript": "NM_022095.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "SH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.2515_2518dupGCCA",
"hgvs_p": "p.Thr840fs",
"transcript": "NM_022095.4",
"protein_id": "NP_071378.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 1342,
"cds_start": 2518,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000322927.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022095.4"
},
{
"aa_ref": "T",
"aa_alt": "SH?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.2515_2518dupGCCA",
"hgvs_p": "p.Thr840fs",
"transcript": "ENST00000322927.3",
"protein_id": "ENSP00000325326.2",
"transcript_support_level": 1,
"aa_start": 840,
"aa_end": null,
"aa_length": 1342,
"cds_start": 2518,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022095.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322927.3"
},
{
"aa_ref": "T",
"aa_alt": "SH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.2557_2560dupGCCA",
"hgvs_p": "p.Thr854fs",
"transcript": "ENST00000944756.1",
"protein_id": "ENSP00000614815.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1356,
"cds_start": 2560,
"cds_end": null,
"cds_length": 4071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944756.1"
},
{
"aa_ref": "T",
"aa_alt": "SH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.2512_2515dupGCCA",
"hgvs_p": "p.Thr839fs",
"transcript": "ENST00000862676.1",
"protein_id": "ENSP00000532735.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 1350,
"cds_start": 2515,
"cds_end": null,
"cds_length": 4053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862676.1"
},
{
"aa_ref": "T",
"aa_alt": "SH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.2515_2518dupGCCA",
"hgvs_p": "p.Thr840fs",
"transcript": "ENST00000862677.1",
"protein_id": "ENSP00000532736.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 1342,
"cds_start": 2518,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862677.1"
},
{
"aa_ref": "T",
"aa_alt": "SH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.2512_2515dupGCCA",
"hgvs_p": "p.Thr839fs",
"transcript": "ENST00000862673.1",
"protein_id": "ENSP00000532732.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 1341,
"cds_start": 2515,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862673.1"
},
{
"aa_ref": "T",
"aa_alt": "SH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.2515_2518dupGCCA",
"hgvs_p": "p.Thr840fs",
"transcript": "ENST00000862675.1",
"protein_id": "ENSP00000532734.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 1341,
"cds_start": 2518,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862675.1"
},
{
"aa_ref": "T",
"aa_alt": "SH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.2512_2515dupGCCA",
"hgvs_p": "p.Thr839fs",
"transcript": "ENST00000862678.1",
"protein_id": "ENSP00000532737.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 1341,
"cds_start": 2515,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862678.1"
},
{
"aa_ref": "T",
"aa_alt": "SH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.2515_2518dupGCCA",
"hgvs_p": "p.Thr840fs",
"transcript": "ENST00000944757.1",
"protein_id": "ENSP00000614816.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 1340,
"cds_start": 2518,
"cds_end": null,
"cds_length": 4023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944757.1"
},
{
"aa_ref": "T",
"aa_alt": "SH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.2515_2518dupGCCA",
"hgvs_p": "p.Thr840fs",
"transcript": "XM_047440363.1",
"protein_id": "XP_047296319.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 1342,
"cds_start": 2518,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440363.1"
},
{
"aa_ref": "T",
"aa_alt": "SH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.2512_2515dupGCCA",
"hgvs_p": "p.Thr839fs",
"transcript": "XM_005260504.5",
"protein_id": "XP_005260561.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 1341,
"cds_start": 2515,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260504.5"
},
{
"aa_ref": "T",
"aa_alt": "SH?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.2515_2518dupGCCA",
"hgvs_p": "p.Thr840fs",
"transcript": "XM_011528979.4",
"protein_id": "XP_011527281.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 910,
"cds_start": 2518,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528979.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.*5_*8dupGCCA",
"hgvs_p": null,
"transcript": "XM_047440364.1",
"protein_id": "XP_047296320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 804,
"cds_start": null,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440364.1"
},
{
"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": 28,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.2443-12_2443-9dupGCCA",
"hgvs_p": null,
"transcript": "ENST00000862674.1",
"protein_id": "ENSP00000532733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1314,
"cds_start": null,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862674.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "n.2996_2999dupGCCA",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_936602.4"
}
],
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"dbsnp": "rs797046124",
"frequency_reference_population": 0.0000034210536,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342105,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -1.246,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_022095.4",
"gene_symbol": "ZNF335",
"hgnc_id": 15807,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2515_2518dupGCCA",
"hgvs_p": "p.Thr840fs"
}
],
"clinvar_disease": "Microcephalic primordial dwarfism due to ZNF335 deficiency",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Microcephalic primordial dwarfism due to ZNF335 deficiency",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}