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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: 21-38300933-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=38300933&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "KCNJ15",
"hgnc_id": 6261,
"hgvs_c": "c.*544A>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_002243.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"chr": "21",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8100000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 375,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8407,
"cdna_start": null,
"cds_end": null,
"cds_length": 1128,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_170736.3",
"gene_hgnc_id": 6261,
"gene_symbol": "KCNJ15",
"hgvs_c": "c.*544A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000398938.7",
"protein_coding": true,
"protein_id": "NP_733932.1",
"strand": true,
"transcript": "NM_170736.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 375,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8407,
"cdna_start": null,
"cds_end": null,
"cds_length": 1128,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000398938.7",
"gene_hgnc_id": 6261,
"gene_symbol": "KCNJ15",
"hgvs_c": "c.*544A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_170736.3",
"protein_coding": true,
"protein_id": "ENSP00000381911.2",
"strand": true,
"transcript": "ENST00000398938.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 375,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8399,
"cdna_start": null,
"cds_end": null,
"cds_length": 1128,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000328656.8",
"gene_hgnc_id": 6261,
"gene_symbol": "KCNJ15",
"hgvs_c": "c.*544A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000331698.3",
"strand": true,
"transcript": "ENST00000328656.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 375,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8538,
"cdna_start": null,
"cds_end": null,
"cds_length": 1128,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001276435.2",
"gene_hgnc_id": 6261,
"gene_symbol": "KCNJ15",
"hgvs_c": "c.*544A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001263364.1",
"strand": true,
"transcript": "NM_001276435.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 375,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8541,
"cdna_start": null,
"cds_end": null,
"cds_length": 1128,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001276436.2",
"gene_hgnc_id": 6261,
"gene_symbol": "KCNJ15",
"hgvs_c": "c.*544A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001263365.1",
"strand": true,
"transcript": "NM_001276436.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 375,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8392,
"cdna_start": null,
"cds_end": null,
"cds_length": 1128,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001276437.2",
"gene_hgnc_id": 6261,
"gene_symbol": "KCNJ15",
"hgvs_c": "c.*544A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001263366.1",
"strand": true,
"transcript": "NM_001276437.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 375,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8310,
"cdna_start": null,
"cds_end": null,
"cds_length": 1128,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001276438.2",
"gene_hgnc_id": 6261,
"gene_symbol": "KCNJ15",
"hgvs_c": "c.*544A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001263367.1",
"strand": true,
"transcript": "NM_001276438.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 375,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8450,
"cdna_start": null,
"cds_end": null,
"cds_length": 1128,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001276439.2",
"gene_hgnc_id": 6261,
"gene_symbol": "KCNJ15",
"hgvs_c": "c.*544A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001263368.1",
"strand": true,
"transcript": "NM_001276439.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 375,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8399,
"cdna_start": null,
"cds_end": null,
"cds_length": 1128,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_002243.5",
"gene_hgnc_id": 6261,
"gene_symbol": "KCNJ15",
"hgvs_c": "c.*544A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002234.2",
"strand": true,
"transcript": "NM_002243.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 375,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8262,
"cdna_start": null,
"cds_end": null,
"cds_length": 1128,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_170737.3",
"gene_hgnc_id": 6261,
"gene_symbol": "KCNJ15",
"hgvs_c": "c.*544A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_733933.1",
"strand": true,
"transcript": "NM_170737.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 375,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2914,
"cdna_start": null,
"cds_end": null,
"cds_length": 1128,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000398930.5",
"gene_hgnc_id": 6261,
"gene_symbol": "KCNJ15",
"hgvs_c": "c.*544A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381904.1",
"strand": true,
"transcript": "ENST00000398930.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 375,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2747,
"cdna_start": null,
"cds_end": null,
"cds_length": 1128,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000398932.5",
"gene_hgnc_id": 6261,
"gene_symbol": "KCNJ15",
"hgvs_c": "c.*544A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381905.1",
"strand": true,
"transcript": "ENST00000398932.5",
"transcript_support_level": 5
},
{
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"aa_end": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2815,
"cdna_start": null,
"cds_end": null,
"cds_length": 1128,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000398934.5",
"gene_hgnc_id": 6261,
"gene_symbol": "KCNJ15",
"hgvs_c": "c.*544A>C",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381907.1",
"strand": true,
"transcript": "ENST00000398934.5",
"transcript_support_level": 3
},
{
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"aa_end": null,
"aa_length": 375,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": null,
"cds_end": null,
"cds_length": 1128,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000612702.4",
"gene_hgnc_id": 6261,
"gene_symbol": "KCNJ15",
"hgvs_c": "c.*544A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484960.1",
"strand": true,
"transcript": "ENST00000612702.4",
"transcript_support_level": 4
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3049,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
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"exon_rank_end": null,
"feature": "ENST00000613499.4",
"gene_hgnc_id": 6261,
"gene_symbol": "KCNJ15",
"hgvs_c": "c.*544A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479100.1",
"strand": true,
"transcript": "ENST00000613499.4",
"transcript_support_level": 4
},
{
"aa_alt": null,
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"aa_length": 375,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4223,
"cdna_start": null,
"cds_end": null,
"cds_length": 1128,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000866348.1",
"gene_hgnc_id": 6261,
"gene_symbol": "KCNJ15",
"hgvs_c": "c.*544A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536407.1",
"strand": true,
"transcript": "ENST00000866348.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4348,
"cdna_start": null,
"cds_end": null,
"cds_length": 1128,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000866349.1",
"gene_hgnc_id": 6261,
"gene_symbol": "KCNJ15",
"hgvs_c": "c.*544A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000536408.1",
"strand": true,
"transcript": "ENST00000866349.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_length": 4427,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000866350.1",
"gene_hgnc_id": 6261,
"gene_symbol": "KCNJ15",
"hgvs_c": "c.*544A>C",
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"protein_coding": true,
"protein_id": "ENSP00000536409.1",
"strand": true,
"transcript": "ENST00000866350.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 1128,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000866351.1",
"gene_hgnc_id": 6261,
"gene_symbol": "KCNJ15",
"hgvs_c": "c.*544A>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000536410.1",
"strand": true,
"transcript": "ENST00000866351.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 1128,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000866352.1",
"gene_hgnc_id": 6261,
"gene_symbol": "KCNJ15",
"hgvs_c": "c.*544A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536411.1",
"strand": true,
"transcript": "ENST00000866352.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 375,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2772,
"cdna_start": null,
"cds_end": null,
"cds_length": 1128,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000866353.1",
"gene_hgnc_id": 6261,
"gene_symbol": "KCNJ15",
"hgvs_c": "c.*544A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536412.1",
"strand": true,
"transcript": "ENST00000866353.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
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"aa_ref": null,
"aa_start": null,
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