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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: 1-3069243-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=3069243&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 3069243,
"ref": "T",
"alt": "G",
"effect": "5_prime_UTR_variant",
"transcript": "NM_022114.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM16",
"gene_hgnc_id": 14000,
"hgvs_c": "c.-17T>G",
"hgvs_p": null,
"transcript": "NM_022114.4",
"protein_id": "NP_071397.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1276,
"cds_start": -4,
"cds_end": null,
"cds_length": 3831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8698,
"mane_select": "ENST00000270722.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM16",
"gene_hgnc_id": 14000,
"hgvs_c": "c.-17T>G",
"hgvs_p": null,
"transcript": "ENST00000270722.10",
"protein_id": "ENSP00000270722.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1276,
"cds_start": -4,
"cds_end": null,
"cds_length": 3831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8698,
"mane_select": "NM_022114.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM16",
"gene_hgnc_id": 14000,
"hgvs_c": "c.-17T>G",
"hgvs_p": null,
"transcript": "ENST00000378391.6",
"protein_id": "ENSP00000367643.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1257,
"cds_start": -4,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM16",
"gene_hgnc_id": 14000,
"hgvs_c": "n.61T>G",
"hgvs_p": null,
"transcript": "ENST00000607632.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM16",
"gene_hgnc_id": 14000,
"hgvs_c": "c.-17T>G",
"hgvs_p": null,
"transcript": "NM_199454.3",
"protein_id": "NP_955533.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1257,
"cds_start": -4,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM16",
"gene_hgnc_id": 14000,
"hgvs_c": "c.-17T>G",
"hgvs_p": null,
"transcript": "ENST00000511072.5",
"protein_id": "ENSP00000426975.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1178,
"cds_start": -4,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM16",
"gene_hgnc_id": 14000,
"hgvs_c": "c.-17T>G",
"hgvs_p": null,
"transcript": "ENST00000514189.5",
"protein_id": "ENSP00000421400.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1177,
"cds_start": -4,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4236,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "PRDM16-DT",
"gene_hgnc_id": 48664,
"hgvs_c": "n.104-272A>C",
"hgvs_p": null,
"transcript": "ENST00000818092.1",
"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": 584,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRDM16-DT",
"gene_hgnc_id": 48664,
"hgvs_c": "n.79-272A>C",
"hgvs_p": null,
"transcript": "ENST00000818119.1",
"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": 396,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124903827",
"gene_hgnc_id": null,
"hgvs_c": "c.1651-272A>C",
"hgvs_p": null,
"transcript": "XM_047436534.1",
"protein_id": "XP_047292490.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": -4,
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"cdna_start": null,
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"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124903827",
"gene_hgnc_id": null,
"hgvs_c": "c.1651-272A>C",
"hgvs_p": null,
"transcript": "XM_047436535.1",
"protein_id": "XP_047292491.1",
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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": 8,
"intron_rank": 1,
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"gene_symbol": "LOC124903827",
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"hgvs_c": "c.1651-272A>C",
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"transcript": "XM_047436536.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 1,
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"gene_symbol": "LOC124903827",
"gene_hgnc_id": null,
"hgvs_c": "c.1651-272A>C",
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"transcript": "XM_047436539.1",
"protein_id": "XP_047292495.1",
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},
{
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],
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"gene_symbol": "LOC124903827",
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"hgvs_c": "c.1651-272A>C",
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"transcript": "XM_047436540.1",
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},
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],
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "LOC124903827",
"gene_hgnc_id": null,
"hgvs_c": "c.1651-272A>C",
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"transcript": "XM_047436542.1",
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},
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],
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"gene_symbol": "LOC124903827",
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"hgvs_c": "c.1651-272A>C",
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"transcript": "XM_047436543.1",
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},
{
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],
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"exon_count": 6,
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"gene_symbol": "LOC124903827",
"gene_hgnc_id": null,
"hgvs_c": "c.1651-272A>C",
"hgvs_p": null,
"transcript": "XM_047436544.1",
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},
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],
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"gene_symbol": "LOC124903827",
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"hgvs_c": "c.1651-272A>C",
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"transcript": "XM_047436547.1",
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],
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},
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],
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},
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"strand": false,
"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "LOC124903827",
"gene_hgnc_id": null,
"hgvs_c": "c.1651-272A>C",
"hgvs_p": null,
"transcript": "XM_047436553.1",
"protein_id": "XP_047292509.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "LOC124903827",
"gene_hgnc_id": null,
"hgvs_c": "c.1651-272A>C",
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"transcript": "XM_047436555.1",
"protein_id": "XP_047292511.1",
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"feature": null
}
],
"gene_symbol": "PRDM16",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.483,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_022114.4",
"gene_symbol": "PRDM16",
"hgnc_id": 14000,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-17T>G",
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},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000818092.1",
"gene_symbol": "PRDM16-DT",
"hgnc_id": 48664,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.104-272A>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XM_047436534.1",
"gene_symbol": "LOC124903827",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1651-272A>C",
"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
}