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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: 6-112100741-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=112100741&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 112100741,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001033564.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM229B",
"gene_hgnc_id": 33858,
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Thr66Met",
"transcript": "NM_001033564.3",
"protein_id": "NP_001028736.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 80,
"cds_start": 197,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368656.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033564.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM229B",
"gene_hgnc_id": 33858,
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Thr66Met",
"transcript": "ENST00000368656.7",
"protein_id": "ENSP00000357645.2",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 80,
"cds_start": 197,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001033564.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368656.7"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM229B",
"gene_hgnc_id": 33858,
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Thr66Met",
"transcript": "ENST00000604268.1",
"protein_id": "ENSP00000474987.1",
"transcript_support_level": 5,
"aa_start": 66,
"aa_end": null,
"aa_length": 80,
"cds_start": 197,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000604268.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM229B",
"gene_hgnc_id": 33858,
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Thr66Met",
"transcript": "ENST00000856566.1",
"protein_id": "ENSP00000526625.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 80,
"cds_start": 197,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856566.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM229B",
"gene_hgnc_id": 33858,
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Thr66Met",
"transcript": "ENST00000856567.1",
"protein_id": "ENSP00000526626.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 80,
"cds_start": 197,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856567.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM229B",
"gene_hgnc_id": 33858,
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Thr66Met",
"transcript": "ENST00000856568.1",
"protein_id": "ENSP00000526627.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 80,
"cds_start": 197,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856568.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM229B",
"gene_hgnc_id": 33858,
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Thr66Met",
"transcript": "ENST00000932580.1",
"protein_id": "ENSP00000602639.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 80,
"cds_start": 197,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932580.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM229B",
"gene_hgnc_id": 33858,
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Thr66Met",
"transcript": "ENST00000932581.1",
"protein_id": "ENSP00000602640.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 80,
"cds_start": 197,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932581.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM229B",
"gene_hgnc_id": 33858,
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Thr66Met",
"transcript": "ENST00000932582.1",
"protein_id": "ENSP00000602641.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 80,
"cds_start": 197,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932582.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM229B",
"gene_hgnc_id": 33858,
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Thr66Met",
"transcript": "ENST00000953343.1",
"protein_id": "ENSP00000623402.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 80,
"cds_start": 197,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953343.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM229B",
"gene_hgnc_id": 33858,
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Thr66Met",
"transcript": "ENST00000953344.1",
"protein_id": "ENSP00000623403.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 80,
"cds_start": 197,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953344.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM229B",
"gene_hgnc_id": 33858,
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Thr66Met",
"transcript": "ENST00000953345.1",
"protein_id": "ENSP00000623404.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 80,
"cds_start": 197,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953345.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM229B",
"gene_hgnc_id": 33858,
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Thr66Met",
"transcript": "XM_017011174.3",
"protein_id": "XP_016866663.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 80,
"cds_start": 197,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011174.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM229B",
"gene_hgnc_id": 33858,
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Thr66Met",
"transcript": "XM_017011175.3",
"protein_id": "XP_016866664.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 80,
"cds_start": 197,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011175.3"
}
],
"gene_symbol": "FAM229B",
"gene_hgnc_id": 33858,
"dbsnp": "rs149743977",
"frequency_reference_population": 0.000066920635,
"hom_count_reference_population": 0,
"allele_count_reference_population": 108,
"gnomad_exomes_af": 0.0000677286,
"gnomad_genomes_af": 0.0000591576,
"gnomad_exomes_ac": 99,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03491616249084473,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.056,
"revel_prediction": "Benign",
"alphamissense_score": 0.046,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.919,
"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_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001033564.3",
"gene_symbol": "FAM229B",
"hgnc_id": 33858,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Thr66Met"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}