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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: 2-85697606-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85697606&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 85697606,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001302758.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNLY",
"gene_hgnc_id": 4414,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Thr119Ile",
"transcript": "NM_006433.5",
"protein_id": "NP_006424.2",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 145,
"cds_start": 356,
"cds_end": null,
"cds_length": 438,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 777,
"mane_select": "ENST00000263863.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006433.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNLY",
"gene_hgnc_id": 4414,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Thr119Ile",
"transcript": "ENST00000263863.9",
"protein_id": "ENSP00000263863.5",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 145,
"cds_start": 356,
"cds_end": null,
"cds_length": 438,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 777,
"mane_select": "NM_006433.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263863.9"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNLY",
"gene_hgnc_id": 4414,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Ile",
"transcript": "ENST00000409696.7",
"protein_id": "ENSP00000387116.3",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 130,
"cds_start": 311,
"cds_end": null,
"cds_length": 393,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409696.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNLY",
"gene_hgnc_id": 4414,
"hgvs_c": "c.254C>T",
"hgvs_p": "p.Thr85Ile",
"transcript": "ENST00000526018.1",
"protein_id": "ENSP00000434467.1",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 185,
"cds_start": 254,
"cds_end": null,
"cds_length": 559,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526018.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNLY",
"gene_hgnc_id": 4414,
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Thr146Ile",
"transcript": "NM_001302758.2",
"protein_id": "NP_001289687.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 172,
"cds_start": 437,
"cds_end": null,
"cds_length": 519,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302758.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNLY",
"gene_hgnc_id": 4414,
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Thr146Ile",
"transcript": "ENST00000524600.5",
"protein_id": "ENSP00000436423.1",
"transcript_support_level": 2,
"aa_start": 146,
"aa_end": null,
"aa_length": 172,
"cds_start": 437,
"cds_end": null,
"cds_length": 519,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 750,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524600.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNLY",
"gene_hgnc_id": 4414,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Thr111Ile",
"transcript": "ENST00000905733.1",
"protein_id": "ENSP00000575792.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 137,
"cds_start": 332,
"cds_end": null,
"cds_length": 414,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905733.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNLY",
"gene_hgnc_id": 4414,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Thr104Ile",
"transcript": "NM_012483.4",
"protein_id": "NP_036615.2",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 130,
"cds_start": 311,
"cds_end": null,
"cds_length": 393,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012483.4"
},
{
"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": "GNLY",
"gene_hgnc_id": 4414,
"hgvs_c": "c.337-958C>T",
"hgvs_p": null,
"transcript": "XM_005264084.3",
"protein_id": "XP_005264141.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": null,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264084.3"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "GNLY",
"gene_hgnc_id": 4414,
"hgvs_c": "c.256-958C>T",
"hgvs_p": null,
"transcript": "XM_005264085.3",
"protein_id": "XP_005264142.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": null,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264085.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNLY",
"gene_hgnc_id": 4414,
"hgvs_c": "n.1800C>T",
"hgvs_p": null,
"transcript": "ENST00000489980.5",
"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": 2055,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000489980.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000310473",
"gene_hgnc_id": null,
"hgvs_c": "n.630G>A",
"hgvs_p": null,
"transcript": "ENST00000850263.1",
"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": 1502,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000850263.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000310473",
"gene_hgnc_id": null,
"hgvs_c": "n.835-39G>A",
"hgvs_p": null,
"transcript": "ENST00000850261.1",
"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": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000850261.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000310473",
"gene_hgnc_id": null,
"hgvs_c": "n.470-39G>A",
"hgvs_p": null,
"transcript": "ENST00000850262.1",
"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": 1305,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000850262.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000310473",
"gene_hgnc_id": null,
"hgvs_c": "n.80-39G>A",
"hgvs_p": null,
"transcript": "ENST00000850264.1",
"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": 860,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000850264.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000310473",
"gene_hgnc_id": null,
"hgvs_c": "n.386-39G>A",
"hgvs_p": null,
"transcript": "ENST00000850265.1",
"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": 835,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000850265.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNLY",
"gene_hgnc_id": 4414,
"hgvs_c": "c.*526C>T",
"hgvs_p": null,
"transcript": "XM_047442947.1",
"protein_id": "XP_047298903.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": null,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442947.1"
}
],
"gene_symbol": "GNLY",
"gene_hgnc_id": 4414,
"dbsnp": "rs11127",
"frequency_reference_population": 0.37468356,
"hom_count_reference_population": 117658,
"allele_count_reference_population": 603879,
"gnomad_exomes_af": 0.380583,
"gnomad_genomes_af": 0.318099,
"gnomad_exomes_ac": 555477,
"gnomad_genomes_ac": 48402,
"gnomad_exomes_homalt": 108650,
"gnomad_genomes_homalt": 9008,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000017444972399971448,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.049,
"revel_prediction": "Benign",
"alphamissense_score": 0.1151,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.582,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001302758.2",
"gene_symbol": "GNLY",
"hgnc_id": 4414,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Thr146Ile"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000850263.1",
"gene_symbol": "ENSG00000310473",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.630G>A",
"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
}