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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: 19-53164826-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=53164826&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 53164826,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001353458.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"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": "ZNF665",
"gene_hgnc_id": 25885,
"hgvs_c": "c.1664C>T",
"hgvs_p": "p.Ser555Leu",
"transcript": "NM_024733.5",
"protein_id": "NP_079009.3",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 678,
"cds_start": 1664,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396424.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024733.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"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": "ZNF665",
"gene_hgnc_id": 25885,
"hgvs_c": "c.1664C>T",
"hgvs_p": "p.Ser555Leu",
"transcript": "ENST00000396424.5",
"protein_id": "ENSP00000379702.2",
"transcript_support_level": 2,
"aa_start": 555,
"aa_end": null,
"aa_length": 678,
"cds_start": 1664,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024733.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396424.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "ZNF665",
"gene_hgnc_id": 25885,
"hgvs_c": "c.1748C>T",
"hgvs_p": "p.Ser583Leu",
"transcript": "NM_001353458.2",
"protein_id": "NP_001340387.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 706,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353458.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "ZNF665",
"gene_hgnc_id": 25885,
"hgvs_c": "c.1664C>T",
"hgvs_p": "p.Ser555Leu",
"transcript": "NM_001353459.2",
"protein_id": "NP_001340388.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 678,
"cds_start": 1664,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353459.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "ZNF665",
"gene_hgnc_id": 25885,
"hgvs_c": "c.1664C>T",
"hgvs_p": "p.Ser555Leu",
"transcript": "ENST00000650736.1",
"protein_id": "ENSP00000498600.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 678,
"cds_start": 1664,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650736.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "ZNF665",
"gene_hgnc_id": 25885,
"hgvs_c": "c.1664C>T",
"hgvs_p": "p.Ser555Leu",
"transcript": "ENST00000868912.1",
"protein_id": "ENSP00000538971.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 678,
"cds_start": 1664,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868912.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "ZNF665",
"gene_hgnc_id": 25885,
"hgvs_c": "c.1664C>T",
"hgvs_p": "p.Ser555Leu",
"transcript": "ENST00000868913.1",
"protein_id": "ENSP00000538972.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 678,
"cds_start": 1664,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868913.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "ZNF665",
"gene_hgnc_id": 25885,
"hgvs_c": "c.1664C>T",
"hgvs_p": "p.Ser555Leu",
"transcript": "ENST00000958707.1",
"protein_id": "ENSP00000628766.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 678,
"cds_start": 1664,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958707.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "ZNF665",
"gene_hgnc_id": 25885,
"hgvs_c": "c.1664C>T",
"hgvs_p": "p.Ser555Leu",
"transcript": "ENST00000958708.1",
"protein_id": "ENSP00000628767.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 678,
"cds_start": 1664,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958708.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "ZNF665",
"gene_hgnc_id": 25885,
"hgvs_c": "c.1658C>T",
"hgvs_p": "p.Ser553Leu",
"transcript": "NM_001353457.2",
"protein_id": "NP_001340386.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 676,
"cds_start": 1658,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353457.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF665",
"gene_hgnc_id": 25885,
"hgvs_c": "c.1469C>T",
"hgvs_p": "p.Ser490Leu",
"transcript": "ENST00000600412.1",
"protein_id": "ENSP00000469154.1",
"transcript_support_level": 5,
"aa_start": 490,
"aa_end": null,
"aa_length": 613,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600412.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "ZNF665",
"gene_hgnc_id": 25885,
"hgvs_c": "c.1715C>T",
"hgvs_p": "p.Ser572Leu",
"transcript": "XM_011527325.4",
"protein_id": "XP_011525627.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 695,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527325.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "ZNF665",
"gene_hgnc_id": 25885,
"hgvs_c": "c.1664C>T",
"hgvs_p": "p.Ser555Leu",
"transcript": "XM_047439446.1",
"protein_id": "XP_047295402.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 678,
"cds_start": 1664,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439446.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "ZNF665",
"gene_hgnc_id": 25885,
"hgvs_c": "c.1658C>T",
"hgvs_p": "p.Ser553Leu",
"transcript": "XM_047439447.1",
"protein_id": "XP_047295403.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 676,
"cds_start": 1658,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439447.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "ZNF665",
"gene_hgnc_id": 25885,
"hgvs_c": "c.1643C>T",
"hgvs_p": "p.Ser548Leu",
"transcript": "XM_047439448.1",
"protein_id": "XP_047295404.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 671,
"cds_start": 1643,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439448.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF665",
"gene_hgnc_id": 25885,
"hgvs_c": "c.1592C>T",
"hgvs_p": "p.Ser531Leu",
"transcript": "XM_047439449.1",
"protein_id": "XP_047295405.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 654,
"cds_start": 1592,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439449.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF665",
"gene_hgnc_id": 25885,
"hgvs_c": "c.1469C>T",
"hgvs_p": "p.Ser490Leu",
"transcript": "XM_047439450.1",
"protein_id": "XP_047295406.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 613,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439450.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF665",
"gene_hgnc_id": 25885,
"hgvs_c": "c.1469C>T",
"hgvs_p": "p.Ser490Leu",
"transcript": "XM_047439451.1",
"protein_id": "XP_047295407.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 613,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439451.1"
}
],
"gene_symbol": "ZNF665",
"gene_hgnc_id": 25885,
"dbsnp": "rs766646492",
"frequency_reference_population": 0.000089836794,
"hom_count_reference_population": 0,
"allele_count_reference_population": 145,
"gnomad_exomes_af": 0.0000950858,
"gnomad_genomes_af": 0.0000394218,
"gnomad_exomes_ac": 139,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2143319845199585,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.107,
"revel_prediction": "Benign",
"alphamissense_score": 0.8039,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.69,
"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": 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": "NM_001353458.2",
"gene_symbol": "ZNF665",
"hgnc_id": 25885,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1748C>T",
"hgvs_p": "p.Ser583Leu"
}
],
"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
}