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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: 1-197086979-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=197086979&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 197086979,
"ref": "A",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_018136.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "ASPM",
"gene_hgnc_id": 19048,
"hgvs_c": "c.10162-7T>A",
"hgvs_p": null,
"transcript": "NM_018136.5",
"protein_id": "NP_060606.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3477,
"cds_start": null,
"cds_end": null,
"cds_length": 10434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367409.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018136.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "ASPM",
"gene_hgnc_id": 19048,
"hgvs_c": "c.10162-7T>A",
"hgvs_p": null,
"transcript": "ENST00000367409.9",
"protein_id": "ENSP00000356379.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3477,
"cds_start": null,
"cds_end": null,
"cds_length": 10434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018136.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367409.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ASPM",
"gene_hgnc_id": 19048,
"hgvs_c": "c.5407-7T>A",
"hgvs_p": null,
"transcript": "ENST00000294732.11",
"protein_id": "ENSP00000294732.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1892,
"cds_start": null,
"cds_end": null,
"cds_length": 5679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294732.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ASPM",
"gene_hgnc_id": 19048,
"hgvs_c": "n.3449-7T>A",
"hgvs_p": null,
"transcript": "ENST00000367408.6",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000367408.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "ASPM",
"gene_hgnc_id": 19048,
"hgvs_c": "c.10384-7T>A",
"hgvs_p": null,
"transcript": "ENST00000680265.1",
"protein_id": "ENSP00000505384.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3551,
"cds_start": null,
"cds_end": null,
"cds_length": 10656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680265.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "ASPM",
"gene_hgnc_id": 19048,
"hgvs_c": "c.10138-7T>A",
"hgvs_p": null,
"transcript": "ENST00000680710.1",
"protein_id": "ENSP00000506676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3469,
"cds_start": null,
"cds_end": null,
"cds_length": 10410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680710.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ASPM",
"gene_hgnc_id": 19048,
"hgvs_c": "c.5407-7T>A",
"hgvs_p": null,
"transcript": "NM_001206846.2",
"protein_id": "NP_001193775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1892,
"cds_start": null,
"cds_end": null,
"cds_length": 5679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206846.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ASPM",
"gene_hgnc_id": 19048,
"hgvs_c": "c.5212-7T>A",
"hgvs_p": null,
"transcript": "ENST00000913989.1",
"protein_id": "ENSP00000584048.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1827,
"cds_start": null,
"cds_end": null,
"cds_length": 5484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913989.1"
}
],
"gene_symbol": "ASPM",
"gene_hgnc_id": 19048,
"dbsnp": "rs141402675",
"frequency_reference_population": 0.0014207751,
"hom_count_reference_population": 25,
"allele_count_reference_population": 2279,
"gnomad_exomes_af": 0.000808012,
"gnomad_genomes_af": 0.00725998,
"gnomad_exomes_ac": 1173,
"gnomad_genomes_ac": 1106,
"gnomad_exomes_homalt": 12,
"gnomad_genomes_homalt": 13,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.44999998807907104,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.16599999368190765,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.029,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0522646066161932,
"dbscsnv_ada_prediction": "Benign",
"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,BS1,BS2",
"acmg_by_gene": [
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_018136.5",
"gene_symbol": "ASPM",
"hgnc_id": 19048,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.10162-7T>A",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal recessive, primary,Microcephaly 5,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:6",
"phenotype_combined": "not specified|not provided|Microcephaly 5, primary, autosomal recessive",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}