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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: 21-33537914-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=33537914&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 33537914,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000381815.9",
"consequences": [
{
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.145+1257A>G",
"hgvs_p": null,
"transcript": "NM_000819.5",
"protein_id": "NP_000810.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1010,
"cds_start": -4,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3318,
"mane_select": "ENST00000381815.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.145+1257A>G",
"hgvs_p": null,
"transcript": "ENST00000381815.9",
"protein_id": "ENSP00000371236.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1010,
"cds_start": -4,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3318,
"mane_select": "NM_000819.5",
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.145+1257A>G",
"hgvs_p": null,
"transcript": "ENST00000381831.7",
"protein_id": "ENSP00000371253.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1010,
"cds_start": -4,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3490,
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.145+1257A>G",
"hgvs_p": null,
"transcript": "ENST00000381839.7",
"protein_id": "ENSP00000371261.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1010,
"cds_start": -4,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3469,
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.145+1257A>G",
"hgvs_p": null,
"transcript": "ENST00000361093.9",
"protein_id": "ENSP00000354388.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": -4,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "n.145+1257A>G",
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.145+1257A>G",
"hgvs_p": null,
"transcript": "NM_001136005.1",
"protein_id": "NP_001129477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1010,
"cds_start": -4,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3537,
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.145+1257A>G",
"hgvs_p": null,
"transcript": "NM_001136006.1",
"protein_id": "NP_001129478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1010,
"cds_start": -4,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3500,
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.145+1257A>G",
"hgvs_p": null,
"transcript": "NM_175085.3",
"protein_id": "NP_780294.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": -4,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2152,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.145+1257A>G",
"hgvs_p": null,
"transcript": "ENST00000430874.5",
"protein_id": "ENSP00000413040.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1036,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.145+1257A>G",
"hgvs_p": null,
"transcript": "ENST00000426819.5",
"protein_id": "ENSP00000398631.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": -4,
"cds_end": null,
"cds_length": 695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GART",
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"hgvs_c": "c.145+1257A>G",
"hgvs_p": null,
"transcript": "ENST00000438059.5",
"protein_id": "ENSP00000413803.1",
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.145+1257A>G",
"hgvs_p": null,
"transcript": "ENST00000441403.1",
"protein_id": "ENSP00000407783.1",
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": 135,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "n.201+1257A>G",
"hgvs_p": null,
"transcript": "ENST00000476524.1",
"protein_id": null,
"transcript_support_level": 2,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.145+1257A>G",
"hgvs_p": null,
"transcript": "XM_005260941.3",
"protein_id": "XP_005260998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1010,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.145+1257A>G",
"hgvs_p": null,
"transcript": "XM_006723989.3",
"protein_id": "XP_006724052.1",
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},
{
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"strand": false,
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],
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"intron_rank": 2,
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"gene_symbol": "GART",
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"hgvs_c": "c.145+1257A>G",
"hgvs_p": null,
"transcript": "XM_006723990.3",
"protein_id": "XP_006724053.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.145+1257A>G",
"hgvs_p": null,
"transcript": "XM_011529526.3",
"protein_id": "XP_011527828.1",
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"biotype": null,
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},
{
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"canonical": false,
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"hgvs_c": "c.145+1257A>G",
"hgvs_p": null,
"transcript": "XM_047440743.1",
"protein_id": "XP_047296699.1",
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"biotype": null,
"feature": null
}
],
"gene_symbol": "GART",
"gene_hgnc_id": 4163,
"dbsnp": "rs4817579",
"frequency_reference_population": 0.65792936,
"hom_count_reference_population": 32859,
"allele_count_reference_population": 99950,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.657929,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 99950,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 32859,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.547,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000381815.9",
"gene_symbol": "GART",
"hgnc_id": 4163,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.145+1257A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}