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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: 19-11948985-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11948985&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11948985,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000254321.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF700",
"gene_hgnc_id": 25292,
"hgvs_c": "c.961C>G",
"hgvs_p": "p.Leu321Val",
"transcript": "NM_144566.3",
"protein_id": "NP_653167.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 742,
"cds_start": 961,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": "ENST00000254321.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF700",
"gene_hgnc_id": 25292,
"hgvs_c": "c.961C>G",
"hgvs_p": "p.Leu321Val",
"transcript": "ENST00000254321.10",
"protein_id": "ENSP00000254321.4",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 742,
"cds_start": 961,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": "NM_144566.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267179",
"gene_hgnc_id": null,
"hgvs_c": "c.63+23712C>G",
"hgvs_p": null,
"transcript": "ENST00000590798.1",
"protein_id": "ENSP00000467286.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": -4,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF700",
"gene_hgnc_id": 25292,
"hgvs_c": "c.970C>G",
"hgvs_p": "p.Leu324Val",
"transcript": "NM_001271848.2",
"protein_id": "NP_001258777.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 745,
"cds_start": 970,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 2852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF700",
"gene_hgnc_id": 25292,
"hgvs_c": "c.970C>G",
"hgvs_p": "p.Leu324Val",
"transcript": "ENST00000622593.4",
"protein_id": "ENSP00000479449.1",
"transcript_support_level": 4,
"aa_start": 324,
"aa_end": null,
"aa_length": 745,
"cds_start": 970,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 2901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF700",
"gene_hgnc_id": 25292,
"hgvs_c": "c.907C>G",
"hgvs_p": "p.Leu303Val",
"transcript": "ENST00000482090.1",
"protein_id": "ENSP00000467996.1",
"transcript_support_level": 2,
"aa_start": 303,
"aa_end": null,
"aa_length": 724,
"cds_start": 907,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 3113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267179",
"gene_hgnc_id": null,
"hgvs_c": "c.64-7520C>G",
"hgvs_p": null,
"transcript": "ENST00000591944.1",
"protein_id": "ENSP00000465172.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": -4,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267274",
"gene_hgnc_id": null,
"hgvs_c": "n.69-3997C>G",
"hgvs_p": null,
"transcript": "ENST00000586394.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267179",
"gene_hgnc_id": null,
"hgvs_c": "n.64-12676C>G",
"hgvs_p": null,
"transcript": "ENST00000591441.1",
"protein_id": "ENSP00000467438.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF69",
"gene_hgnc_id": 13138,
"hgvs_c": "c.500-31056C>G",
"hgvs_p": null,
"transcript": "XM_017027231.2",
"protein_id": "XP_016882720.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 166,
"cds_start": -4,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF700",
"gene_hgnc_id": 25292,
"dbsnp": "rs17001730",
"frequency_reference_population": 0.00073674513,
"hom_count_reference_population": 15,
"allele_count_reference_population": 1185,
"gnomad_exomes_af": 0.000405179,
"gnomad_genomes_af": 0.00390733,
"gnomad_exomes_ac": 590,
"gnomad_genomes_ac": 595,
"gnomad_exomes_homalt": 11,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005991518497467041,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.074,
"revel_prediction": "Benign",
"alphamissense_score": 0.1813,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.966,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000254321.10",
"gene_symbol": "ZNF700",
"hgnc_id": 25292,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.961C>G",
"hgvs_p": "p.Leu321Val"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000590798.1",
"gene_symbol": "ENSG00000267179",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.63+23712C>G",
"hgvs_p": null
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000586394.1",
"gene_symbol": "ENSG00000267274",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.69-3997C>G",
"hgvs_p": null
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "XM_017027231.2",
"gene_symbol": "ZNF69",
"hgnc_id": 13138,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.500-31056C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}