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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: 16-3027218-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=3027218&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 3027218,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000326266.13",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.748A>C",
"hgvs_p": "p.Thr250Pro",
"transcript": "NM_024339.5",
"protein_id": "NP_077315.2",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 341,
"cds_start": 748,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 1411,
"mane_select": "ENST00000326266.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.748A>C",
"hgvs_p": "p.Thr250Pro",
"transcript": "ENST00000326266.13",
"protein_id": "ENSP00000326531.8",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 341,
"cds_start": 748,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 1411,
"mane_select": "NM_024339.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.676A>C",
"hgvs_p": "p.Thr226Pro",
"transcript": "ENST00000574549.5",
"protein_id": "ENSP00000458295.1",
"transcript_support_level": 1,
"aa_start": 226,
"aa_end": null,
"aa_length": 317,
"cds_start": 676,
"cds_end": null,
"cds_length": 954,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 1300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.748A>C",
"hgvs_p": "p.Thr250Pro",
"transcript": "NM_001347704.2",
"protein_id": "NP_001334633.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 341,
"cds_start": 748,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 1305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.676A>C",
"hgvs_p": "p.Thr226Pro",
"transcript": "NM_001347703.2",
"protein_id": "NP_001334632.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 317,
"cds_start": 676,
"cds_end": null,
"cds_length": 954,
"cdna_start": 930,
"cdna_end": null,
"cdna_length": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.676A>C",
"hgvs_p": "p.Thr226Pro",
"transcript": "ENST00000575576.5",
"protein_id": "ENSP00000460015.1",
"transcript_support_level": 5,
"aa_start": 226,
"aa_end": null,
"aa_length": 317,
"cds_start": 676,
"cds_end": null,
"cds_length": 954,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 1360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.748A>C",
"hgvs_p": "p.Thr250Pro",
"transcript": "NM_001142350.3",
"protein_id": "NP_001135822.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 296,
"cds_start": 748,
"cds_end": null,
"cds_length": 891,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 1276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"hgvs_c": "c.748A>C",
"hgvs_p": "p.Thr250Pro",
"transcript": "ENST00000253952.9",
"protein_id": "ENSP00000253952.9",
"transcript_support_level": 2,
"aa_start": 250,
"aa_end": null,
"aa_length": 296,
"cds_start": 748,
"cds_end": null,
"cds_length": 891,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 1246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "THOC6",
"gene_hgnc_id": 28369,
"dbsnp": "rs1555498821",
"frequency_reference_population": 6.840722e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84072e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5971407890319824,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.175,
"revel_prediction": "Benign",
"alphamissense_score": 0.7694,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.661,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.11,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000326266.13",
"gene_symbol": "THOC6",
"hgnc_id": 28369,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.748A>C",
"hgvs_p": "p.Thr250Pro"
}
],
"clinvar_disease": "Inborn genetic diseases,THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases|THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}