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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: 10-100286649-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=100286649&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 100286649,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_173809.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S2",
"gene_hgnc_id": 20984,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "NM_173809.5",
"protein_id": "NP_776170.2",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 142,
"cds_start": 11,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370372.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173809.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S2",
"gene_hgnc_id": 20984,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "ENST00000370372.7",
"protein_id": "ENSP00000359398.2",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 142,
"cds_start": 11,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173809.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370372.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S2",
"gene_hgnc_id": 20984,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "ENST00000881083.1",
"protein_id": "ENSP00000551142.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 144,
"cds_start": 11,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881083.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S2",
"gene_hgnc_id": 20984,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "NM_001282439.2",
"protein_id": "NP_001269368.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 141,
"cds_start": 11,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282439.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S2",
"gene_hgnc_id": 20984,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "ENST00000881082.1",
"protein_id": "ENSP00000551141.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 141,
"cds_start": 11,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881082.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S2",
"gene_hgnc_id": 20984,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "ENST00000881088.1",
"protein_id": "ENSP00000551147.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 103,
"cds_start": 11,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881088.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S2",
"gene_hgnc_id": 20984,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "ENST00000881085.1",
"protein_id": "ENSP00000551143.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 102,
"cds_start": 11,
"cds_end": null,
"cds_length": 309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881085.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S2",
"gene_hgnc_id": 20984,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "ENST00000922810.1",
"protein_id": "ENSP00000592869.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 102,
"cds_start": 11,
"cds_end": null,
"cds_length": 309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922810.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S2",
"gene_hgnc_id": 20984,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "ENST00000881087.1",
"protein_id": "ENSP00000551146.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 67,
"cds_start": 11,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881087.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S2",
"gene_hgnc_id": 20984,
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val",
"transcript": "ENST00000944445.1",
"protein_id": "ENSP00000614504.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 50,
"cds_start": 11,
"cds_end": null,
"cds_length": 153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944445.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S2",
"gene_hgnc_id": 20984,
"hgvs_c": "c.-238C>T",
"hgvs_p": null,
"transcript": "NM_001282437.2",
"protein_id": "NP_001269366.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": null,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282437.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S2",
"gene_hgnc_id": 20984,
"hgvs_c": "c.-239C>T",
"hgvs_p": null,
"transcript": "NM_001282436.2",
"protein_id": "NP_001269365.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 95,
"cds_start": null,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282436.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLOC1S2",
"gene_hgnc_id": 20984,
"hgvs_c": "n.25C>T",
"hgvs_p": null,
"transcript": "ENST00000361832.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000361832.2"
}
],
"gene_symbol": "BLOC1S2",
"gene_hgnc_id": 20984,
"dbsnp": "rs373514982",
"frequency_reference_population": 0.0005206256,
"hom_count_reference_population": 1,
"allele_count_reference_population": 838,
"gnomad_exomes_af": 0.000549668,
"gnomad_genomes_af": 0.000242849,
"gnomad_exomes_ac": 801,
"gnomad_genomes_ac": 37,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08845043182373047,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.211,
"revel_prediction": "Benign",
"alphamissense_score": 0.2389,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.864,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_173809.5",
"gene_symbol": "BLOC1S2",
"hgnc_id": 20984,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Ala4Val"
}
],
"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
}