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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: 19-11948652-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11948652&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11948652,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000254321.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.628C>T",
"hgvs_p": "p.Arg210*",
"transcript": "NM_144566.3",
"protein_id": "NP_653167.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 742,
"cds_start": 628,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": "ENST00000254321.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.628C>T",
"hgvs_p": "p.Arg210*",
"transcript": "ENST00000254321.10",
"protein_id": "ENSP00000254321.4",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 742,
"cds_start": 628,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 732,
"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+23379C>T",
"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": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.637C>T",
"hgvs_p": "p.Arg213*",
"transcript": "NM_001271848.2",
"protein_id": "NP_001258777.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 745,
"cds_start": 637,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 2852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.637C>T",
"hgvs_p": "p.Arg213*",
"transcript": "ENST00000622593.4",
"protein_id": "ENSP00000479449.1",
"transcript_support_level": 4,
"aa_start": 213,
"aa_end": null,
"aa_length": 745,
"cds_start": 637,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 2901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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.574C>T",
"hgvs_p": "p.Arg192*",
"transcript": "ENST00000482090.1",
"protein_id": "ENSP00000467996.1",
"transcript_support_level": 2,
"aa_start": 192,
"aa_end": null,
"aa_length": 724,
"cds_start": 574,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 992,
"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.64-7853C>T",
"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.69-4330C>T",
"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.64-13009C>T",
"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.500-31389C>T",
"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": "rs73509026",
"frequency_reference_population": 0.000006205183,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000616653,
"gnomad_genomes_af": 0.00000657618,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1899999976158142,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": -1.236,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000254321.10",
"gene_symbol": "ZNF700",
"hgnc_id": 25292,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.628C>T",
"hgvs_p": "p.Arg210*"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000590798.1",
"gene_symbol": "ENSG00000267179",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.63+23379C>T",
"hgvs_p": null
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000586394.1",
"gene_symbol": "ENSG00000267274",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.69-4330C>T",
"hgvs_p": null
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XM_017027231.2",
"gene_symbol": "ZNF69",
"hgnc_id": 13138,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.500-31389C>T",
"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
}