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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: 20-45950453-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=45950453&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 45950453,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_022095.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3332G>T",
"hgvs_p": "p.Arg1111Leu",
"transcript": "NM_022095.4",
"protein_id": "NP_071378.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3332,
"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": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3332G>T",
"hgvs_p": "p.Arg1111Leu",
"transcript": "ENST00000322927.3",
"protein_id": "ENSP00000325326.2",
"transcript_support_level": 1,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3332,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3374G>T",
"hgvs_p": "p.Arg1125Leu",
"transcript": "ENST00000944756.1",
"protein_id": "ENSP00000614815.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1356,
"cds_start": 3374,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3329G>T",
"hgvs_p": "p.Arg1110Leu",
"transcript": "ENST00000862676.1",
"protein_id": "ENSP00000532735.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1350,
"cds_start": 3329,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3332G>T",
"hgvs_p": "p.Arg1111Leu",
"transcript": "ENST00000862677.1",
"protein_id": "ENSP00000532736.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3332,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3329G>T",
"hgvs_p": "p.Arg1110Leu",
"transcript": "ENST00000862673.1",
"protein_id": "ENSP00000532732.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3329,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3332G>T",
"hgvs_p": "p.Arg1111Leu",
"transcript": "ENST00000862675.1",
"protein_id": "ENSP00000532734.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3332,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3329G>T",
"hgvs_p": "p.Arg1110Leu",
"transcript": "ENST00000862678.1",
"protein_id": "ENSP00000532737.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3329,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3326G>T",
"hgvs_p": "p.Arg1109Leu",
"transcript": "ENST00000944757.1",
"protein_id": "ENSP00000614816.1",
"transcript_support_level": null,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1340,
"cds_start": 3326,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3248G>T",
"hgvs_p": "p.Arg1083Leu",
"transcript": "ENST00000862674.1",
"protein_id": "ENSP00000532733.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3248,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3332G>T",
"hgvs_p": "p.Arg1111Leu",
"transcript": "XM_047440363.1",
"protein_id": "XP_047296319.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3332,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"hgvs_c": "c.3329G>T",
"hgvs_p": "p.Arg1110Leu",
"transcript": "XM_005260504.5",
"protein_id": "XP_005260561.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3329,
"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"
}
],
"gene_symbol": "ZNF335",
"gene_hgnc_id": 15807,
"dbsnp": "rs397514642",
"frequency_reference_population": 0.000006840516,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000684052,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.883398175239563,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9900000095367432,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.294,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5384,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.258,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.53,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999990070443708,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_022095.4",
"gene_symbol": "ZNF335",
"hgnc_id": 15807,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3332G>T",
"hgvs_p": "p.Arg1111Leu"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}