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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: 19-36182677-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36182677&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 36182677,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152477.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF565",
"gene_hgnc_id": 26726,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His",
"transcript": "NM_152477.5",
"protein_id": "NP_689690.3",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 499,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000304116.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152477.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"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": "ZNF565",
"gene_hgnc_id": 26726,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His",
"transcript": "ENST00000304116.10",
"protein_id": "ENSP00000306869.5",
"transcript_support_level": 2,
"aa_start": 430,
"aa_end": null,
"aa_length": 499,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152477.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304116.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF565",
"gene_hgnc_id": 26726,
"hgvs_c": "c.1409G>A",
"hgvs_p": "p.Arg470His",
"transcript": "ENST00000355114.9",
"protein_id": "ENSP00000347234.5",
"transcript_support_level": 2,
"aa_start": 470,
"aa_end": null,
"aa_length": 539,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355114.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF565",
"gene_hgnc_id": 26726,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His",
"transcript": "NM_001042474.2",
"protein_id": "NP_001035939.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 499,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042474.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF565",
"gene_hgnc_id": 26726,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His",
"transcript": "NM_001366188.1",
"protein_id": "NP_001353117.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 499,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366188.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF565",
"gene_hgnc_id": 26726,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His",
"transcript": "NM_001366189.1",
"protein_id": "NP_001353118.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 499,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366189.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF565",
"gene_hgnc_id": 26726,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His",
"transcript": "ENST00000392173.6",
"protein_id": "ENSP00000376013.1",
"transcript_support_level": 2,
"aa_start": 430,
"aa_end": null,
"aa_length": 499,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392173.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF565",
"gene_hgnc_id": 26726,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His",
"transcript": "ENST00000877508.1",
"protein_id": "ENSP00000547567.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 499,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877508.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF565",
"gene_hgnc_id": 26726,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His",
"transcript": "ENST00000877509.1",
"protein_id": "ENSP00000547568.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 499,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877509.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF565",
"gene_hgnc_id": 26726,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His",
"transcript": "ENST00000877510.1",
"protein_id": "ENSP00000547569.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 499,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877510.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF565",
"gene_hgnc_id": 26726,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His",
"transcript": "ENST00000920739.1",
"protein_id": "ENSP00000590798.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 499,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920739.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF565",
"gene_hgnc_id": 26726,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His",
"transcript": "ENST00000920740.1",
"protein_id": "ENSP00000590799.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 499,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920740.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF565",
"gene_hgnc_id": 26726,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His",
"transcript": "ENST00000920741.1",
"protein_id": "ENSP00000590800.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 499,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920741.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF565",
"gene_hgnc_id": 26726,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His",
"transcript": "ENST00000964655.1",
"protein_id": "ENSP00000634714.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 499,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964655.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF565",
"gene_hgnc_id": 26726,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His",
"transcript": "ENST00000964656.1",
"protein_id": "ENSP00000634715.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 499,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964656.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF565",
"gene_hgnc_id": 26726,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Arg365His",
"transcript": "NM_001366190.1",
"protein_id": "NP_001353119.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 434,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366190.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF565",
"gene_hgnc_id": 26726,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His",
"transcript": "XM_011526512.3",
"protein_id": "XP_011524814.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 499,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526512.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF565",
"gene_hgnc_id": 26726,
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His",
"transcript": "XM_011526514.3",
"protein_id": "XP_011524816.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 499,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526514.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZNF565",
"gene_hgnc_id": 26726,
"hgvs_c": "c.1094G>A",
"hgvs_p": "p.Arg365His",
"transcript": "XM_017026343.2",
"protein_id": "XP_016881832.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 434,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026343.2"
}
],
"gene_symbol": "ZNF565",
"gene_hgnc_id": 26726,
"dbsnp": "rs375467058",
"frequency_reference_population": 0.00008674101,
"hom_count_reference_population": 0,
"allele_count_reference_population": 140,
"gnomad_exomes_af": 0.0000902963,
"gnomad_genomes_af": 0.0000525811,
"gnomad_exomes_ac": 132,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03879714012145996,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.136,
"revel_prediction": "Benign",
"alphamissense_score": 0.5027,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.479,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_152477.5",
"gene_symbol": "ZNF565",
"hgnc_id": 26726,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1289G>A",
"hgvs_p": "p.Arg430His"
}
],
"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
}