← Back to variant description
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: 17-28724624-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=28724624&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 28724624,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_138463.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD1",
"gene_hgnc_id": 25177,
"hgvs_c": "c.630C>G",
"hgvs_p": "p.Ile210Met",
"transcript": "NM_138463.4",
"protein_id": "NP_612472.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 247,
"cds_start": 630,
"cds_end": null,
"cds_length": 744,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 1042,
"mane_select": "ENST00000292090.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD1",
"gene_hgnc_id": 25177,
"hgvs_c": "c.630C>G",
"hgvs_p": "p.Ile210Met",
"transcript": "ENST00000292090.8",
"protein_id": "ENSP00000292090.3",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 247,
"cds_start": 630,
"cds_end": null,
"cds_length": 744,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 1042,
"mane_select": "NM_138463.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD1",
"gene_hgnc_id": 25177,
"hgvs_c": "c.489C>G",
"hgvs_p": "p.Ile163Met",
"transcript": "NM_001160407.2",
"protein_id": "NP_001153879.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 200,
"cds_start": 489,
"cds_end": null,
"cds_length": 603,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD1",
"gene_hgnc_id": 25177,
"hgvs_c": "c.489C>G",
"hgvs_p": "p.Ile163Met",
"transcript": "ENST00000394933.7",
"protein_id": "ENSP00000378391.3",
"transcript_support_level": 2,
"aa_start": 163,
"aa_end": null,
"aa_length": 200,
"cds_start": 489,
"cds_end": null,
"cds_length": 603,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD1",
"gene_hgnc_id": 25177,
"hgvs_c": "c.417C>G",
"hgvs_p": "p.Ile139Met",
"transcript": "ENST00000580518.1",
"protein_id": "ENSP00000466264.1",
"transcript_support_level": 3,
"aa_start": 139,
"aa_end": null,
"aa_length": 146,
"cds_start": 417,
"cds_end": null,
"cds_length": 442,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD1",
"gene_hgnc_id": 25177,
"hgvs_c": "c.140C>G",
"hgvs_p": "p.Ser47Cys",
"transcript": "ENST00000581236.1",
"protein_id": "ENSP00000468670.1",
"transcript_support_level": 2,
"aa_start": 47,
"aa_end": null,
"aa_length": 52,
"cds_start": 140,
"cds_end": null,
"cds_length": 159,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD1",
"gene_hgnc_id": 25177,
"hgvs_c": "c.545C>G",
"hgvs_p": "p.Ser182Cys",
"transcript": "XM_011524278.4",
"protein_id": "XP_011522580.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 187,
"cds_start": 545,
"cds_end": null,
"cds_length": 564,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD1",
"gene_hgnc_id": 25177,
"hgvs_c": "c.417C>G",
"hgvs_p": "p.Ile139Met",
"transcript": "XM_006721671.5",
"protein_id": "XP_006721734.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 176,
"cds_start": 417,
"cds_end": null,
"cds_length": 531,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLCD1",
"gene_hgnc_id": 25177,
"hgvs_c": "c.404C>G",
"hgvs_p": "p.Ser135Cys",
"transcript": "XM_047435299.1",
"protein_id": "XP_047291255.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 140,
"cds_start": 404,
"cds_end": null,
"cds_length": 423,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TLCD1",
"gene_hgnc_id": 25177,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.42288410663604736,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.335,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1515,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.301,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_138463.4",
"gene_symbol": "TLCD1",
"hgnc_id": 25177,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.630C>G",
"hgvs_p": "p.Ile210Met"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}