← 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: 11-89284805-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=89284805&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PS3",
"PM1",
"PM5",
"PP2",
"PP3",
"PP5",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TYR",
"hgnc_id": 12442,
"hgvs_c": "c.1217C>T",
"hgvs_p": "p.Pro406Leu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 11,
"score": 10,
"transcript": "NM_000372.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM5,PP2,PP3,PP5,BP4",
"acmg_score": 10,
"allele_count_reference_population": 7323,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.2342,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.48,
"chr": "11",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": " LIGHT/DARK SKIN,Abnormality of the skin,Albinism or congenital nystagmus,Hearing impairment,Inborn genetic diseases,Ocular albinism with congenital sensorineural hearing loss,Oculocutaneous albinism,Oculocutaneous albinism type 1A,Oculocutaneous albinism type 1B,SKIN/HAIR/EYE PIGMENTATION 3,TYR-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:15 LP:12 US:2 O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03701430559158325,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 529,
"aa_ref": "P",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2062,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1217,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_000372.5",
"gene_hgnc_id": 12442,
"gene_symbol": "TYR",
"hgvs_c": "c.1217C>T",
"hgvs_p": "p.Pro406Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263321.6",
"protein_coding": true,
"protein_id": "NP_000363.1",
"strand": true,
"transcript": "NM_000372.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 529,
"aa_ref": "P",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2062,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1217,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000263321.6",
"gene_hgnc_id": 12442,
"gene_symbol": "TYR",
"hgvs_c": "c.1217C>T",
"hgvs_p": "p.Pro406Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000372.5",
"protein_coding": true,
"protein_id": "ENSP00000263321.4",
"strand": true,
"transcript": "ENST00000263321.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 471,
"aa_ref": "P",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2156,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1217,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011542970.3",
"gene_hgnc_id": 12442,
"gene_symbol": "TYR",
"hgvs_c": "c.1217C>T",
"hgvs_p": "p.Pro406Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541272.1",
"strand": true,
"transcript": "XM_011542970.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 530,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000528243.1",
"gene_hgnc_id": 12442,
"gene_symbol": "TYR",
"hgvs_c": "n.215C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000528243.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs104894313",
"effect": "missense_variant",
"frequency_reference_population": 0.004543678,
"gene_hgnc_id": 12442,
"gene_symbol": "TYR",
"gnomad_exomes_ac": 6761,
"gnomad_exomes_af": 0.00463161,
"gnomad_exomes_homalt": 18,
"gnomad_genomes_ac": 562,
"gnomad_genomes_af": 0.00369888,
"gnomad_genomes_homalt": 5,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 23,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"phenotype_combined": "Oculocutaneous albinism type 1B|not provided|Oculocutaneous albinism|Oculocutaneous albinism type 1A|Inborn genetic diseases|Ocular albinism with congenital sensorineural hearing loss;Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B;SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|Hearing impairment|Abnormality of the skin|SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN|TYR-related disorder|Albinism or congenital nystagmus|Oculocutaneous albinism type 1A;Oculocutaneous albinism type 1B;SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.416,
"pos": 89284805,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.921,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000372.5"
}
]
}