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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: 9-894044-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=894044&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 894044,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000382276.8",
"consequences": [
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT1",
"gene_hgnc_id": 2934,
"hgvs_c": "c.671A>C",
"hgvs_p": "p.Asn224Thr",
"transcript": "NM_021951.3",
"protein_id": "NP_068770.2",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 373,
"cds_start": 671,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": "ENST00000382276.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": true,
"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": "DMRT1",
"gene_hgnc_id": 2934,
"hgvs_c": "c.671A>C",
"hgvs_p": "p.Asn224Thr",
"transcript": "ENST00000382276.8",
"protein_id": "ENSP00000371711.3",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 373,
"cds_start": 671,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": "NM_021951.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT1",
"gene_hgnc_id": 2934,
"hgvs_c": "c.197A>C",
"hgvs_p": "p.Asn66Thr",
"transcript": "ENST00000569227.1",
"protein_id": "ENSP00000454701.1",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 215,
"cds_start": 197,
"cds_end": null,
"cds_length": 648,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 1385,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT1",
"gene_hgnc_id": 2934,
"hgvs_c": "n.820A>C",
"hgvs_p": null,
"transcript": "ENST00000564322.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT1",
"gene_hgnc_id": 2934,
"hgvs_c": "c.197A>C",
"hgvs_p": "p.Asn66Thr",
"transcript": "NM_001363767.1",
"protein_id": "NP_001350696.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 215,
"cds_start": 197,
"cds_end": null,
"cds_length": 648,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT1",
"gene_hgnc_id": 2934,
"hgvs_c": "c.671A>C",
"hgvs_p": "p.Asn224Thr",
"transcript": "XM_006716732.2",
"protein_id": "XP_006716795.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 374,
"cds_start": 671,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT1",
"gene_hgnc_id": 2934,
"hgvs_c": "c.197A>C",
"hgvs_p": "p.Asn66Thr",
"transcript": "XM_011517770.2",
"protein_id": "XP_011516072.2",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 216,
"cds_start": 197,
"cds_end": null,
"cds_length": 651,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT1",
"gene_hgnc_id": 2934,
"hgvs_c": "c.197A>C",
"hgvs_p": "p.Asn66Thr",
"transcript": "XM_011517773.4",
"protein_id": "XP_011516075.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 216,
"cds_start": 197,
"cds_end": null,
"cds_length": 651,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMRT1",
"gene_hgnc_id": 2934,
"hgvs_c": "c.197A>C",
"hgvs_p": "p.Asn66Thr",
"transcript": "XM_011517771.2",
"protein_id": "XP_011516073.2",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 215,
"cds_start": 197,
"cds_end": null,
"cds_length": 648,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DMRT1",
"gene_hgnc_id": 2934,
"dbsnp": "rs140506267",
"frequency_reference_population": 0.0000013680901,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136809,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7952444553375244,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.369,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3378,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.663,
"phylop100way_prediction": "Uncertain_significance",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000382276.8",
"gene_symbol": "DMRT1",
"hgnc_id": 2934,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.671A>C",
"hgvs_p": "p.Asn224Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}