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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: 19-2834236-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=2834236&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 2834236,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001102651.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF554",
"gene_hgnc_id": 26629,
"hgvs_c": "c.1001A>C",
"hgvs_p": "p.Asn334Thr",
"transcript": "NM_001102651.2",
"protein_id": "NP_001096121.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 538,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000317243.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001102651.2"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF554",
"gene_hgnc_id": 26629,
"hgvs_c": "c.1001A>C",
"hgvs_p": "p.Asn334Thr",
"transcript": "ENST00000317243.10",
"protein_id": "ENSP00000321132.4",
"transcript_support_level": 1,
"aa_start": 334,
"aa_end": null,
"aa_length": 538,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001102651.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317243.10"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF554",
"gene_hgnc_id": 26629,
"hgvs_c": "c.998A>C",
"hgvs_p": "p.Asn333Thr",
"transcript": "ENST00000901630.1",
"protein_id": "ENSP00000571689.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 537,
"cds_start": 998,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901630.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF554",
"gene_hgnc_id": 26629,
"hgvs_c": "c.959A>C",
"hgvs_p": "p.Asn320Thr",
"transcript": "ENST00000963471.1",
"protein_id": "ENSP00000633530.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 524,
"cds_start": 959,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963471.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"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": "ZNF554",
"gene_hgnc_id": 26629,
"hgvs_c": "c.809A>C",
"hgvs_p": "p.Asn270Thr",
"transcript": "ENST00000963470.1",
"protein_id": "ENSP00000633529.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 474,
"cds_start": 809,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963470.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF554",
"gene_hgnc_id": 26629,
"hgvs_c": "c.998A>C",
"hgvs_p": "p.Asn333Thr",
"transcript": "XM_017026234.2",
"protein_id": "XP_016881723.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 537,
"cds_start": 998,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026234.2"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF554",
"gene_hgnc_id": 26629,
"hgvs_c": "c.848A>C",
"hgvs_p": "p.Asn283Thr",
"transcript": "XM_047438128.1",
"protein_id": "XP_047294084.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 487,
"cds_start": 848,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438128.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"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": "ZNF554",
"gene_hgnc_id": 26629,
"hgvs_c": "c.551A>C",
"hgvs_p": "p.Asn184Thr",
"transcript": "XM_006722635.4",
"protein_id": "XP_006722698.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 388,
"cds_start": 551,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722635.4"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF554",
"gene_hgnc_id": 26629,
"hgvs_c": "c.551A>C",
"hgvs_p": "p.Asn184Thr",
"transcript": "XM_017026235.2",
"protein_id": "XP_016881724.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 388,
"cds_start": 551,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026235.2"
},
{
"aa_ref": "N",
"aa_alt": "T",
"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": "ZNF554",
"gene_hgnc_id": 26629,
"hgvs_c": "c.551A>C",
"hgvs_p": "p.Asn184Thr",
"transcript": "XM_017026236.2",
"protein_id": "XP_016881725.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 388,
"cds_start": 551,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026236.2"
},
{
"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": "ZNF554",
"gene_hgnc_id": 26629,
"hgvs_c": "n.2493A>C",
"hgvs_p": null,
"transcript": "ENST00000588534.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000588534.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF554",
"gene_hgnc_id": 26629,
"hgvs_c": "n.*891A>C",
"hgvs_p": null,
"transcript": "ENST00000590116.5",
"protein_id": "ENSP00000464865.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000590116.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF554",
"gene_hgnc_id": 26629,
"hgvs_c": "n.*891A>C",
"hgvs_p": null,
"transcript": "ENST00000590116.5",
"protein_id": "ENSP00000464865.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000590116.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF554",
"gene_hgnc_id": 26629,
"hgvs_c": "c.*562A>C",
"hgvs_p": null,
"transcript": "ENST00000591265.1",
"protein_id": "ENSP00000467997.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": null,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591265.1"
}
],
"gene_symbol": "ZNF554",
"gene_hgnc_id": 26629,
"dbsnp": "rs751719426",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04976624250411987,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.03,
"revel_prediction": "Benign",
"alphamissense_score": 0.3862,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.518,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001102651.2",
"gene_symbol": "ZNF554",
"hgnc_id": 26629,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1001A>C",
"hgvs_p": "p.Asn334Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}