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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: 2-233470440-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=233470440&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 233470440,
"ref": "C",
"alt": "T",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000264057.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "n.*2360C>T",
"hgvs_p": null,
"transcript": "ENST00000430834.1",
"protein_id": "ENSP00000390970.1",
"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": 5379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.*980C>T",
"hgvs_p": null,
"transcript": "NM_152879.3",
"protein_id": "NP_690618.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1214,
"cds_start": -4,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6308,
"mane_select": "ENST00000264057.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.*980C>T",
"hgvs_p": null,
"transcript": "ENST00000264057.7",
"protein_id": "ENSP00000264057.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1214,
"cds_start": -4,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6308,
"mane_select": "NM_152879.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.*980C>T",
"hgvs_p": null,
"transcript": "ENST00000409813.7",
"protein_id": "ENSP00000386455.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1170,
"cds_start": -4,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "n.*2360C>T",
"hgvs_p": null,
"transcript": "ENST00000430834.1",
"protein_id": "ENSP00000390970.1",
"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": 5379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.*980C>T",
"hgvs_p": null,
"transcript": "NM_003648.3",
"protein_id": "NP_003639.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1170,
"cds_start": -4,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.*980C>T",
"hgvs_p": null,
"transcript": "NM_001377259.1",
"protein_id": "NP_001364188.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1081,
"cds_start": -4,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.*930C>T",
"hgvs_p": null,
"transcript": "XM_047446097.1",
"protein_id": "XP_047302053.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1187,
"cds_start": -4,
"cds_end": null,
"cds_length": 3564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.*980C>T",
"hgvs_p": null,
"transcript": "XM_011512028.4",
"protein_id": "XP_011510330.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1174,
"cds_start": -4,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.*980C>T",
"hgvs_p": null,
"transcript": "XM_017005138.3",
"protein_id": "XP_016860627.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1174,
"cds_start": -4,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.*980C>T",
"hgvs_p": null,
"transcript": "XM_011512030.3",
"protein_id": "XP_011510332.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1171,
"cds_start": -4,
"cds_end": null,
"cds_length": 3516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.*980C>T",
"hgvs_p": null,
"transcript": "XM_011512031.4",
"protein_id": "XP_011510333.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1156,
"cds_start": -4,
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"cds_length": 3471,
"cdna_start": null,
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"cdna_length": 6235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.*980C>T",
"hgvs_p": null,
"transcript": "XM_011512032.4",
"protein_id": "XP_011510334.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1156,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.*930C>T",
"hgvs_p": null,
"transcript": "XM_011512029.4",
"protein_id": "XP_011510331.2",
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.*980C>T",
"hgvs_p": null,
"transcript": "XM_011512035.2",
"protein_id": "XP_011510337.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1081,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 6937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.*980C>T",
"hgvs_p": null,
"transcript": "XM_047446099.1",
"protein_id": "XP_047302055.1",
"transcript_support_level": null,
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"cds_start": -4,
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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": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.*980C>T",
"hgvs_p": null,
"transcript": "XM_047446100.1",
"protein_id": "XP_047302056.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1081,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.*980C>T",
"hgvs_p": null,
"transcript": "XM_047446102.1",
"protein_id": "XP_047302058.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": -4,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
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"cdna_length": 5914,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"hgvs_c": "c.*980C>T",
"hgvs_p": null,
"transcript": "XM_047446103.1",
"protein_id": "XP_047302059.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000302812",
"gene_hgnc_id": null,
"hgvs_c": "n.160+1598G>A",
"hgvs_p": null,
"transcript": "ENST00000789715.1",
"protein_id": null,
"transcript_support_level": null,
"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": 350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DGKD",
"gene_hgnc_id": 2851,
"dbsnp": "rs2971871",
"frequency_reference_population": 0.18295899,
"hom_count_reference_population": 2593,
"allele_count_reference_population": 27891,
"gnomad_exomes_af": 0.222222,
"gnomad_genomes_af": 0.182866,
"gnomad_exomes_ac": 80,
"gnomad_genomes_ac": 27811,
"gnomad_exomes_homalt": 10,
"gnomad_genomes_homalt": 2583,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"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": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.529,
"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": "ENST00000264057.7",
"gene_symbol": "DGKD",
"hgnc_id": 2851,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*980C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000789715.1",
"gene_symbol": "ENSG00000302812",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.160+1598G>A",
"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
}