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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: 1-10210750-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=10210750&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 10210750,
"ref": "G",
"alt": "C",
"effect": "5_prime_UTR_variant",
"transcript": "NM_001365951.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.-208G>C",
"hgvs_p": null,
"transcript": "NM_001365951.3",
"protein_id": "NP_001352880.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1816,
"cds_start": -4,
"cds_end": null,
"cds_length": 5451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10855,
"mane_select": "ENST00000676179.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.-208G>C",
"hgvs_p": null,
"transcript": "ENST00000676179.1",
"protein_id": "ENSP00000502065.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1816,
"cds_start": -4,
"cds_end": null,
"cds_length": 5451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10855,
"mane_select": "NM_001365951.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.-208G>C",
"hgvs_p": null,
"transcript": "ENST00000377093.9",
"protein_id": "ENSP00000366297.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1153,
"cds_start": -4,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7800,
"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": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "n.-208G>C",
"hgvs_p": null,
"transcript": "ENST00000696500.1",
"protein_id": "ENSP00000512666.1",
"transcript_support_level": null,
"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": 7839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.-208G>C",
"hgvs_p": null,
"transcript": "NM_015074.3",
"protein_id": "NP_055889.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1770,
"cds_start": -4,
"cds_end": null,
"cds_length": 5313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.-208G>C",
"hgvs_p": null,
"transcript": "NM_183416.4",
"protein_id": "NP_904325.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1153,
"cds_start": -4,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "n.-208G>C",
"hgvs_p": null,
"transcript": "ENST00000696500.1",
"protein_id": "ENSP00000512666.1",
"transcript_support_level": null,
"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": 7839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.-208G>C",
"hgvs_p": null,
"transcript": "ENST00000263934.10",
"protein_id": "ENSP00000263934.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1770,
"cds_start": -4,
"cds_end": null,
"cds_length": 5313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.-208G>C",
"hgvs_p": null,
"transcript": "ENST00000696502.1",
"protein_id": "ENSP00000512668.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1837,
"cds_start": -4,
"cds_end": null,
"cds_length": 5514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.-208G>C",
"hgvs_p": null,
"transcript": "ENST00000696503.1",
"protein_id": "ENSP00000512669.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1791,
"cds_start": -4,
"cds_end": null,
"cds_length": 5376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.-208G>C",
"hgvs_p": null,
"transcript": "ENST00000696504.1",
"protein_id": "ENSP00000512670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1791,
"cds_start": -4,
"cds_end": null,
"cds_length": 5376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"hgvs_c": "c.-208G>C",
"hgvs_p": null,
"transcript": "ENST00000696501.1",
"protein_id": "ENSP00000512667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": -4,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KIF1B",
"gene_hgnc_id": 16636,
"dbsnp": "rs146663377",
"frequency_reference_population": 0.0313921,
"hom_count_reference_population": 274,
"allele_count_reference_population": 4722,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0.0313921,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 4722,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 274,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3400000035762787,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.096,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -18,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001365951.3",
"gene_symbol": "KIF1B",
"hgnc_id": 16636,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-208G>C",
"hgvs_p": null
}
],
"clinvar_disease": "Neuroblastoma,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Neuroblastoma|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}