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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: 21-33524806-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=33524806&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 33524806,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000381815.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.1261G>T",
"hgvs_p": "p.Val421Phe",
"transcript": "NM_000819.5",
"protein_id": "NP_000810.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 1010,
"cds_start": 1261,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 3318,
"mane_select": "ENST00000381815.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.1261G>T",
"hgvs_p": "p.Val421Phe",
"transcript": "ENST00000381815.9",
"protein_id": "ENSP00000371236.4",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 1010,
"cds_start": 1261,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 3318,
"mane_select": "NM_000819.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.1261G>T",
"hgvs_p": "p.Val421Phe",
"transcript": "ENST00000381831.7",
"protein_id": "ENSP00000371253.3",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 1010,
"cds_start": 1261,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 1525,
"cdna_end": null,
"cdna_length": 3490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.1261G>T",
"hgvs_p": "p.Val421Phe",
"transcript": "ENST00000381839.7",
"protein_id": "ENSP00000371261.3",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 1010,
"cds_start": 1261,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 3469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.1261G>T",
"hgvs_p": "p.Val421Phe",
"transcript": "ENST00000361093.9",
"protein_id": "ENSP00000354388.5",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 433,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 2149,
"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": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "n.*344G>T",
"hgvs_p": null,
"transcript": "ENST00000424203.5",
"protein_id": "ENSP00000390003.1",
"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": 3571,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "n.23G>T",
"hgvs_p": null,
"transcript": "ENST00000460305.1",
"protein_id": null,
"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": 389,
"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": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "n.*344G>T",
"hgvs_p": null,
"transcript": "ENST00000424203.5",
"protein_id": "ENSP00000390003.1",
"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": 3571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.1261G>T",
"hgvs_p": "p.Val421Phe",
"transcript": "NM_001136005.1",
"protein_id": "NP_001129477.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 1010,
"cds_start": 1261,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.1261G>T",
"hgvs_p": "p.Val421Phe",
"transcript": "NM_001136006.1",
"protein_id": "NP_001129478.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 1010,
"cds_start": 1261,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 1535,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.1261G>T",
"hgvs_p": "p.Val421Phe",
"transcript": "NM_175085.3",
"protein_id": "NP_780294.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 433,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 2152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.1261G>T",
"hgvs_p": "p.Val421Phe",
"transcript": "XM_005260941.3",
"protein_id": "XP_005260998.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 1010,
"cds_start": 1261,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 3349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.1261G>T",
"hgvs_p": "p.Val421Phe",
"transcript": "XM_006723989.3",
"protein_id": "XP_006724052.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 1010,
"cds_start": 1261,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 1553,
"cdna_end": null,
"cdna_length": 3518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.1261G>T",
"hgvs_p": "p.Val421Phe",
"transcript": "XM_006723990.3",
"protein_id": "XP_006724053.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 1010,
"cds_start": 1261,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.1261G>T",
"hgvs_p": "p.Val421Phe",
"transcript": "XM_011529526.3",
"protein_id": "XP_011527828.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 1010,
"cds_start": 1261,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 1605,
"cdna_end": null,
"cdna_length": 3570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.1261G>T",
"hgvs_p": "p.Val421Phe",
"transcript": "XM_047440743.1",
"protein_id": "XP_047296699.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 1010,
"cds_start": 1261,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 3277,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "n.793G>T",
"hgvs_p": null,
"transcript": "ENST00000467575.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"dbsnp": "rs8788",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.568320631980896,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.273,
"revel_prediction": "Benign",
"alphamissense_score": 0.4299,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.767,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000381815.9",
"gene_symbol": "GART",
"hgnc_id": 4163,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1261G>T",
"hgvs_p": "p.Val421Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}