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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: X-106956972-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=106956972&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 106956972,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000355610.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC4",
"gene_hgnc_id": 23485,
"hgvs_c": "c.1418C>T",
"hgvs_p": "p.Thr473Ile",
"transcript": "NM_024657.5",
"protein_id": "NP_078933.3",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 937,
"cds_start": 1418,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 1661,
"cdna_end": null,
"cdna_length": 3798,
"mane_select": "ENST00000355610.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC4",
"gene_hgnc_id": 23485,
"hgvs_c": "c.1418C>T",
"hgvs_p": "p.Thr473Ile",
"transcript": "ENST00000355610.9",
"protein_id": "ENSP00000347821.4",
"transcript_support_level": 1,
"aa_start": 473,
"aa_end": null,
"aa_length": 937,
"cds_start": 1418,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 1661,
"cdna_end": null,
"cdna_length": 3798,
"mane_select": "NM_024657.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC4",
"gene_hgnc_id": 23485,
"hgvs_c": "c.1418C>T",
"hgvs_p": "p.Thr473Ile",
"transcript": "ENST00000255495.7",
"protein_id": "ENSP00000255495.7",
"transcript_support_level": 1,
"aa_start": 473,
"aa_end": null,
"aa_length": 900,
"cds_start": 1418,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 2940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MORC4",
"gene_hgnc_id": 23485,
"hgvs_c": "c.1418C>T",
"hgvs_p": "p.Thr473Ile",
"transcript": "NM_001085354.3",
"protein_id": "NP_001078823.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 900,
"cds_start": 1418,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 1661,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MORC4",
"gene_hgnc_id": 23485,
"hgvs_c": "c.110+36258C>T",
"hgvs_p": null,
"transcript": "ENST00000604604.1",
"protein_id": "ENSP00000474750.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 37,
"cds_start": -4,
"cds_end": null,
"cds_length": 114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MORC4",
"gene_hgnc_id": 23485,
"dbsnp": "rs6622126",
"frequency_reference_population": 0.4781363,
"hom_count_reference_population": 260386,
"allele_count_reference_population": 519005,
"gnomad_exomes_af": 0.478136,
"gnomad_genomes_af": 0.576864,
"gnomad_exomes_ac": 519005,
"gnomad_genomes_ac": 63939,
"gnomad_exomes_homalt": 89810,
"gnomad_genomes_homalt": 14348,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000013747165894528734,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.033,
"revel_prediction": "Benign",
"alphamissense_score": 0.0774,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.575,
"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": "ENST00000355610.9",
"gene_symbol": "MORC4",
"hgnc_id": 23485,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1418C>T",
"hgvs_p": "p.Thr473Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}