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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: 9-98849052-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=98849052&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 98849052,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000375011.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT12",
"gene_hgnc_id": 19877,
"hgvs_c": "c.1706C>T",
"hgvs_p": "p.Ser569Leu",
"transcript": "NM_024642.5",
"protein_id": "NP_078918.3",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 581,
"cds_start": 1706,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1735,
"cdna_end": null,
"cdna_length": 2764,
"mane_select": "ENST00000375011.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT12",
"gene_hgnc_id": 19877,
"hgvs_c": "c.1706C>T",
"hgvs_p": "p.Ser569Leu",
"transcript": "ENST00000375011.4",
"protein_id": "ENSP00000364150.3",
"transcript_support_level": 1,
"aa_start": 569,
"aa_end": null,
"aa_length": 581,
"cds_start": 1706,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1735,
"cdna_end": null,
"cdna_length": 2764,
"mane_select": "NM_024642.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT12",
"gene_hgnc_id": 19877,
"hgvs_c": "c.1484C>T",
"hgvs_p": "p.Ser495Leu",
"transcript": "XM_011519018.3",
"protein_id": "XP_011517320.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 507,
"cds_start": 1484,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 3408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT12",
"gene_hgnc_id": 19877,
"hgvs_c": "c.1454C>T",
"hgvs_p": "p.Ser485Leu",
"transcript": "XM_017015133.1",
"protein_id": "XP_016870622.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 497,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT12",
"gene_hgnc_id": 19877,
"hgvs_c": "c.998C>T",
"hgvs_p": "p.Ser333Leu",
"transcript": "XM_011519020.2",
"protein_id": "XP_011517322.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 345,
"cds_start": 998,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 2117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT12",
"gene_hgnc_id": 19877,
"hgvs_c": "c.815C>T",
"hgvs_p": "p.Ser272Leu",
"transcript": "XM_006717287.1",
"protein_id": "XP_006717350.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 284,
"cds_start": 815,
"cds_end": null,
"cds_length": 855,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALNT12",
"gene_hgnc_id": 19877,
"hgvs_c": "c.815C>T",
"hgvs_p": "p.Ser272Leu",
"transcript": "XM_047423871.1",
"protein_id": "XP_047279827.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 284,
"cds_start": 815,
"cds_end": null,
"cds_length": 855,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 2381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "GALNT12",
"gene_hgnc_id": 19877,
"hgvs_c": "n.190C>T",
"hgvs_p": null,
"transcript": "ENST00000470473.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ENSG00000267026",
"gene_hgnc_id": null,
"hgvs_c": "n.562G>A",
"hgvs_p": null,
"transcript": "ENST00000589257.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267026",
"gene_hgnc_id": null,
"hgvs_c": "n.356G>A",
"hgvs_p": null,
"transcript": "ENST00000630758.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267026",
"gene_hgnc_id": null,
"hgvs_c": "n.91-1561G>A",
"hgvs_p": null,
"transcript": "ENST00000433997.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267026",
"gene_hgnc_id": null,
"hgvs_c": "n.310-1561G>A",
"hgvs_p": null,
"transcript": "ENST00000629238.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GALNT12",
"gene_hgnc_id": 19877,
"dbsnp": "rs199958039",
"frequency_reference_population": 0.000018586761,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000184696,
"gnomad_genomes_af": 0.0000197125,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10464712977409363,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.04,
"revel_prediction": "Benign",
"alphamissense_score": 0.0963,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.426,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000375011.4",
"gene_symbol": "GALNT12",
"hgnc_id": 19877,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1706C>T",
"hgvs_p": "p.Ser569Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000589257.1",
"gene_symbol": "ENSG00000267026",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.562G>A",
"hgvs_p": null
}
],
"clinvar_disease": " 1, susceptibility to,Colorectal cancer,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not provided|not specified|Colorectal cancer, susceptibility to, 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}