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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: 4-1799453-C-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1799453&ref=C&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"exon_region"
],
"gene_symbol": "FGFR3",
"hgnc_id": 3690,
"hgvs_c": "c.",
"hgvs_p": null,
"inheritance_mode": "AR,AD,SD",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000481110.7",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 806,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4301,
"cdna_start": null,
"cds_end": null,
"cds_length": 2421,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000440486.8",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000142.5",
"protein_coding": true,
"protein_id": "ENSP00000414914.2",
"strand": true,
"transcript": "ENST00000440486.8",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 792,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4149,
"cdna_start": null,
"cds_end": null,
"cds_length": 2379,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000481110.7",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420533.2",
"strand": true,
"transcript": "ENST00000481110.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 694,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": null,
"cds_end": null,
"cds_length": 2085,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000352904.6",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000231803.1",
"strand": true,
"transcript": "ENST00000352904.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2841,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000260795.8",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "n.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000260795.3",
"strand": true,
"transcript": "ENST00000260795.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 809,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4316,
"cdna_start": null,
"cds_end": null,
"cds_length": 2430,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000901225.1",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571284.1",
"strand": true,
"transcript": "ENST00000901225.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 808,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4307,
"cdna_start": null,
"cds_end": null,
"cds_length": 2427,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000340107.9",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339824.4",
"strand": true,
"transcript": "ENST00000340107.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 808,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4230,
"cdna_start": null,
"cds_end": null,
"cds_length": 2427,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000901227.1",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571286.1",
"strand": true,
"transcript": "ENST00000901227.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 808,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4294,
"cdna_start": null,
"cds_end": null,
"cds_length": 2427,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000955403.1",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625462.1",
"strand": true,
"transcript": "ENST00000955403.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 807,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4315,
"cdna_start": null,
"cds_end": null,
"cds_length": 2424,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000911470.1",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581529.1",
"strand": true,
"transcript": "ENST00000911470.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 807,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4302,
"cdna_start": null,
"cds_end": null,
"cds_length": 2424,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000911473.1",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581532.1",
"strand": true,
"transcript": "ENST00000911473.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 807,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4233,
"cdna_start": null,
"cds_end": null,
"cds_length": 2424,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000955404.1",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625463.1",
"strand": true,
"transcript": "ENST00000955404.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 806,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4233,
"cdna_start": null,
"cds_end": null,
"cds_length": 2421,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000901226.1",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571285.1",
"strand": true,
"transcript": "ENST00000901226.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 802,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4294,
"cdna_start": null,
"cds_end": null,
"cds_length": 2409,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000412135.7",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412903.3",
"strand": true,
"transcript": "ENST00000412135.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 794,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4266,
"cdna_start": null,
"cds_end": null,
"cds_length": 2385,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000911472.1",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581531.1",
"strand": true,
"transcript": "ENST00000911472.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 794,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4056,
"cdna_start": null,
"cds_end": null,
"cds_length": 2385,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000911474.1",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581533.1",
"strand": true,
"transcript": "ENST00000911474.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 793,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4259,
"cdna_start": null,
"cds_end": null,
"cds_length": 2382,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000955402.1",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625461.1",
"strand": true,
"transcript": "ENST00000955402.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 777,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4223,
"cdna_start": null,
"cds_end": null,
"cds_length": 2334,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000911471.1",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581530.1",
"strand": true,
"transcript": "ENST00000911471.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 695,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3848,
"cdna_start": null,
"cds_end": null,
"cds_length": 2088,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000901228.1",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571287.1",
"strand": true,
"transcript": "ENST00000901228.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 695,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3978,
"cdna_start": null,
"cds_end": null,
"cds_length": 2088,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000955401.1",
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625460.1",
"strand": true,
"transcript": "ENST00000955401.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": null,
"canonical": null,
"cdna_end": null,
"cdna_length": null,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intragenic_variant"
],
"exon_count": null,
"exon_rank": null,
"exon_rank_end": null,
"feature": null,
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"hgvs_c": "n.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": null,
"protein_id": null,
"strand": true,
"transcript": null,
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "exon_region",
"frequency_reference_population": null,
"gene_hgnc_id": 3690,
"gene_symbol": "FGFR3",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.351,
"pos": 1799453,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "ENST00000481110.7"
}
]
}