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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: 19-52950042-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=52950042&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 52950042,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001031665.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"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": "ZNF816",
"gene_hgnc_id": 26995,
"hgvs_c": "c.1733G>C",
"hgvs_p": "p.Gly578Ala",
"transcript": "NM_001202457.3",
"protein_id": "NP_001189386.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 651,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000444460.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202457.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "ZNF816",
"gene_hgnc_id": 26995,
"hgvs_c": "c.1733G>C",
"hgvs_p": "p.Gly578Ala",
"transcript": "ENST00000444460.7",
"protein_id": "ENSP00000403266.2",
"transcript_support_level": 1,
"aa_start": 578,
"aa_end": null,
"aa_length": 651,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001202457.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444460.7"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "ZNF816",
"gene_hgnc_id": 26995,
"hgvs_c": "c.1733G>C",
"hgvs_p": "p.Gly578Ala",
"transcript": "ENST00000357666.8",
"protein_id": "ENSP00000350295.4",
"transcript_support_level": 1,
"aa_start": 578,
"aa_end": null,
"aa_length": 651,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357666.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF816-ZNF321P",
"gene_hgnc_id": 38879,
"hgvs_c": "c.190+2709G>C",
"hgvs_p": null,
"transcript": "ENST00000391777.3",
"protein_id": "ENSP00000375656.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 233,
"cds_start": null,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391777.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "ZNF816",
"gene_hgnc_id": 26995,
"hgvs_c": "c.1733G>C",
"hgvs_p": "p.Gly578Ala",
"transcript": "NM_001031665.4",
"protein_id": "NP_001026835.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 651,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031665.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "ZNF816",
"gene_hgnc_id": 26995,
"hgvs_c": "c.1733G>C",
"hgvs_p": "p.Gly578Ala",
"transcript": "NM_001202456.3",
"protein_id": "NP_001189385.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 651,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202456.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "ZNF816",
"gene_hgnc_id": 26995,
"hgvs_c": "c.1733G>C",
"hgvs_p": "p.Gly578Ala",
"transcript": "ENST00000866654.1",
"protein_id": "ENSP00000536713.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 651,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866654.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "ZNF816",
"gene_hgnc_id": 26995,
"hgvs_c": "c.1733G>C",
"hgvs_p": "p.Gly578Ala",
"transcript": "ENST00000866655.1",
"protein_id": "ENSP00000536714.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 651,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866655.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "ZNF816",
"gene_hgnc_id": 26995,
"hgvs_c": "c.1733G>C",
"hgvs_p": "p.Gly578Ala",
"transcript": "ENST00000866656.1",
"protein_id": "ENSP00000536715.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 651,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866656.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "ZNF816",
"gene_hgnc_id": 26995,
"hgvs_c": "c.1733G>C",
"hgvs_p": "p.Gly578Ala",
"transcript": "ENST00000866657.1",
"protein_id": "ENSP00000536716.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 651,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866657.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "ZNF816",
"gene_hgnc_id": 26995,
"hgvs_c": "c.1733G>C",
"hgvs_p": "p.Gly578Ala",
"transcript": "ENST00000866658.1",
"protein_id": "ENSP00000536717.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 651,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866658.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "ZNF816",
"gene_hgnc_id": 26995,
"hgvs_c": "c.1733G>C",
"hgvs_p": "p.Gly578Ala",
"transcript": "ENST00000918754.1",
"protein_id": "ENSP00000588813.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 651,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918754.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "ZNF816",
"gene_hgnc_id": 26995,
"hgvs_c": "c.1733G>C",
"hgvs_p": "p.Gly578Ala",
"transcript": "ENST00000918755.1",
"protein_id": "ENSP00000588814.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 651,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918755.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "ZNF816",
"gene_hgnc_id": 26995,
"hgvs_c": "c.1733G>C",
"hgvs_p": "p.Gly578Ala",
"transcript": "ENST00000918756.1",
"protein_id": "ENSP00000588815.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 651,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918756.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "ZNF816",
"gene_hgnc_id": 26995,
"hgvs_c": "c.1733G>C",
"hgvs_p": "p.Gly578Ala",
"transcript": "ENST00000955288.1",
"protein_id": "ENSP00000625347.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 651,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955288.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"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": "ZNF816",
"gene_hgnc_id": 26995,
"hgvs_c": "c.1733G>C",
"hgvs_p": "p.Gly578Ala",
"transcript": "ENST00000955289.1",
"protein_id": "ENSP00000625348.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 651,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955289.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF816-ZNF321P",
"gene_hgnc_id": 38879,
"hgvs_c": "c.190+2709G>C",
"hgvs_p": null,
"transcript": "NM_001202473.2",
"protein_id": "NP_001189402.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 233,
"cds_start": null,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202473.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000306382",
"gene_hgnc_id": null,
"hgvs_c": "n.921C>G",
"hgvs_p": null,
"transcript": "ENST00000817332.1",
"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": "ENST00000817332.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000306382",
"gene_hgnc_id": null,
"hgvs_c": "n.*139C>G",
"hgvs_p": null,
"transcript": "ENST00000817333.1",
"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": "ENST00000817333.1"
}
],
"gene_symbol": "ZNF816",
"gene_hgnc_id": 26995,
"dbsnp": "rs878995040",
"frequency_reference_population": 0.000012998795,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000129988,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06421568989753723,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.018,
"revel_prediction": "Benign",
"alphamissense_score": 0.2866,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.253,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001031665.4",
"gene_symbol": "ZNF816",
"hgnc_id": 26995,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1733G>C",
"hgvs_p": "p.Gly578Ala"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001202473.2",
"gene_symbol": "ZNF816-ZNF321P",
"hgnc_id": 38879,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.190+2709G>C",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000817332.1",
"gene_symbol": "ENSG00000306382",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.921C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}