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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: 21-33583576-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=33583576&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 33583576,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000303071.10",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.876C>A",
"hgvs_p": "p.Phe292Leu",
"transcript": "NM_017613.4",
"protein_id": "NP_060083.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 566,
"cds_start": 876,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": "ENST00000303071.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.876C>A",
"hgvs_p": "p.Phe292Leu",
"transcript": "ENST00000303071.10",
"protein_id": "ENSP00000307143.4",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 566,
"cds_start": 876,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": "NM_017613.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "n.464+1014C>A",
"hgvs_p": null,
"transcript": "ENST00000442660.5",
"protein_id": "ENSP00000408788.1",
"transcript_support_level": 1,
"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": 1566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "n.464+1014C>A",
"hgvs_p": null,
"transcript": "ENST00000444517.5",
"protein_id": "ENSP00000392405.1",
"transcript_support_level": 1,
"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": 1180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.834C>A",
"hgvs_p": "p.Phe278Leu",
"transcript": "ENST00000303113.10",
"protein_id": "ENSP00000304716.3",
"transcript_support_level": 5,
"aa_start": 278,
"aa_end": null,
"aa_length": 552,
"cds_start": 834,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.786C>A",
"hgvs_p": "p.Phe262Leu",
"transcript": "ENST00000437395.5",
"protein_id": "ENSP00000399535.1",
"transcript_support_level": 5,
"aa_start": 262,
"aa_end": null,
"aa_length": 536,
"cds_start": 786,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.876C>A",
"hgvs_p": "p.Phe292Leu",
"transcript": "ENST00000453626.5",
"protein_id": "ENSP00000394276.1",
"transcript_support_level": 5,
"aa_start": 292,
"aa_end": null,
"aa_length": 508,
"cds_start": 876,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 2332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.876C>A",
"hgvs_p": "p.Phe292Leu",
"transcript": "ENST00000432378.5",
"protein_id": "ENSP00000398329.1",
"transcript_support_level": 5,
"aa_start": 292,
"aa_end": null,
"aa_length": 495,
"cds_start": 876,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 1618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "n.*64C>A",
"hgvs_p": null,
"transcript": "ENST00000457359.5",
"protein_id": "ENSP00000415191.1",
"transcript_support_level": 5,
"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": 2273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "n.*64C>A",
"hgvs_p": null,
"transcript": "ENST00000457359.5",
"protein_id": "ENSP00000415191.1",
"transcript_support_level": 5,
"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": 2273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.359+1014C>A",
"hgvs_p": null,
"transcript": "ENST00000440810.1",
"protein_id": "ENSP00000401082.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 233,
"cds_start": -4,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "n.*253+1014C>A",
"hgvs_p": null,
"transcript": "ENST00000417871.5",
"protein_id": "ENSP00000392014.1",
"transcript_support_level": 5,
"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": 1820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"dbsnp": "rs779803447",
"frequency_reference_population": 6.84148e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84148e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9049711227416992,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.751,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9717,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.701,
"phylop100way_prediction": "Benign",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS1,PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PS1",
"PM2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000303071.10",
"gene_symbol": "DONSON",
"hgnc_id": 2993,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.876C>A",
"hgvs_p": "p.Phe292Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}