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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: 19-55642944-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55642944&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 55642944,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000325333.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF580",
"gene_hgnc_id": 29473,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Ala146Pro",
"transcript": "NM_207115.2",
"protein_id": "NP_996998.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 172,
"cds_start": 436,
"cds_end": null,
"cds_length": 519,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": "ENST00000325333.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF580",
"gene_hgnc_id": 29473,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Ala146Pro",
"transcript": "ENST00000325333.10",
"protein_id": "ENSP00000320050.4",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 172,
"cds_start": 436,
"cds_end": null,
"cds_length": 519,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": "NM_207115.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF580",
"gene_hgnc_id": 29473,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Ala146Pro",
"transcript": "NM_001163423.2",
"protein_id": "NP_001156895.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 172,
"cds_start": 436,
"cds_end": null,
"cds_length": 519,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 1026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF580",
"gene_hgnc_id": 29473,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Ala146Pro",
"transcript": "NM_016202.2",
"protein_id": "NP_057286.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 172,
"cds_start": 436,
"cds_end": null,
"cds_length": 519,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 1419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF580",
"gene_hgnc_id": 29473,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Ala146Pro",
"transcript": "ENST00000543039.2",
"protein_id": "ENSP00000443957.1",
"transcript_support_level": 6,
"aa_start": 146,
"aa_end": null,
"aa_length": 172,
"cds_start": 436,
"cds_end": null,
"cds_length": 519,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF580",
"gene_hgnc_id": 29473,
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Ala146Pro",
"transcript": "ENST00000545125.1",
"protein_id": "ENSP00000446126.1",
"transcript_support_level": 3,
"aa_start": 146,
"aa_end": null,
"aa_length": 172,
"cds_start": 436,
"cds_end": null,
"cds_length": 519,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 1025,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF581",
"gene_hgnc_id": 25017,
"hgvs_c": "c.-19-1609G>C",
"hgvs_p": null,
"transcript": "ENST00000587252.5",
"protein_id": "ENSP00000466047.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 197,
"cds_start": -4,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1324,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC106",
"gene_hgnc_id": 30181,
"hgvs_c": "c.-102+1761G>C",
"hgvs_p": null,
"transcript": "ENST00000592996.5",
"protein_id": "ENSP00000466597.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": -4,
"cds_end": null,
"cds_length": 518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 741,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF581",
"gene_hgnc_id": 25017,
"hgvs_c": "c.-19-1609G>C",
"hgvs_p": null,
"transcript": "ENST00000585995.1",
"protein_id": "ENSP00000466338.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": -4,
"cds_end": null,
"cds_length": 419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 591,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF581",
"gene_hgnc_id": 25017,
"hgvs_c": "c.-19-1609G>C",
"hgvs_p": null,
"transcript": "XM_017026867.2",
"protein_id": "XP_016882356.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 197,
"cds_start": -4,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "ZNF580",
"gene_hgnc_id": 29473,
"hgvs_c": "c.*123G>C",
"hgvs_p": null,
"transcript": "ENST00000592461.5",
"protein_id": "ENSP00000467142.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": -4,
"cds_end": null,
"cds_length": 313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "ZNF580",
"gene_hgnc_id": 29473,
"hgvs_c": "c.*126G>C",
"hgvs_p": null,
"transcript": "ENST00000592881.1",
"protein_id": "ENSP00000468407.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 102,
"cds_start": -4,
"cds_end": null,
"cds_length": 310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF580",
"gene_hgnc_id": 29473,
"dbsnp": "rs1982620797",
"frequency_reference_population": 7.7787234e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.77872e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12003752589225769,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.073,
"revel_prediction": "Benign",
"alphamissense_score": 0.0838,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.369,
"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": "ENST00000325333.10",
"gene_symbol": "ZNF580",
"hgnc_id": 29473,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.436G>C",
"hgvs_p": "p.Ala146Pro"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000587252.5",
"gene_symbol": "ZNF581",
"hgnc_id": 25017,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-19-1609G>C",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000592996.5",
"gene_symbol": "CCDC106",
"hgnc_id": 30181,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-102+1761G>C",
"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
}