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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: 20-36754790-A-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=36754790&ref=A&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"exon_region"
],
"gene_symbol": "DSN1",
"hgnc_id": 16165,
"hgvs_c": "c.",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_024918.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 356,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2181,
"cdna_start": null,
"cds_end": null,
"cds_length": 1071,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001145315.2",
"gene_hgnc_id": 16165,
"gene_symbol": "DSN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373750.9",
"protein_coding": true,
"protein_id": "NP_001138787.1",
"strand": false,
"transcript": "NM_001145315.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 356,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2181,
"cdna_start": null,
"cds_end": null,
"cds_length": 1071,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000373750.9",
"gene_hgnc_id": 16165,
"gene_symbol": "DSN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001145315.2",
"protein_coding": true,
"protein_id": "ENSP00000362855.4",
"strand": false,
"transcript": "ENST00000373750.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2447,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000480153.5",
"gene_hgnc_id": 16165,
"gene_symbol": "DSN1",
"hgvs_c": "n.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000480153.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 356,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2449,
"cdna_start": null,
"cds_end": null,
"cds_length": 1071,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001145316.2",
"gene_hgnc_id": 16165,
"gene_symbol": "DSN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138788.1",
"strand": false,
"transcript": "NM_001145316.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 356,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2362,
"cdna_start": null,
"cds_end": null,
"cds_length": 1071,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_024918.4",
"gene_hgnc_id": 16165,
"gene_symbol": "DSN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_079194.3",
"strand": false,
"transcript": "NM_024918.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 356,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2441,
"cdna_start": null,
"cds_end": null,
"cds_length": 1071,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000426836.5",
"gene_hgnc_id": 16165,
"gene_symbol": "DSN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389810.1",
"strand": false,
"transcript": "ENST00000426836.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 356,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2858,
"cdna_start": null,
"cds_end": null,
"cds_length": 1071,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000863304.1",
"gene_hgnc_id": 16165,
"gene_symbol": "DSN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533363.1",
"strand": false,
"transcript": "ENST00000863304.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 356,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4352,
"cdna_start": null,
"cds_end": null,
"cds_length": 1071,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000863306.1",
"gene_hgnc_id": 16165,
"gene_symbol": "DSN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533365.1",
"strand": false,
"transcript": "ENST00000863306.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 356,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2230,
"cdna_start": null,
"cds_end": null,
"cds_length": 1071,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000925982.1",
"gene_hgnc_id": 16165,
"gene_symbol": "DSN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596041.1",
"strand": false,
"transcript": "ENST00000925982.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 356,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2121,
"cdna_start": null,
"cds_end": null,
"cds_length": 1071,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000925993.1",
"gene_hgnc_id": 16165,
"gene_symbol": "DSN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596052.1",
"strand": false,
"transcript": "ENST00000925993.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 356,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3610,
"cdna_start": null,
"cds_end": null,
"cds_length": 1071,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000963379.1",
"gene_hgnc_id": 16165,
"gene_symbol": "DSN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633438.1",
"strand": false,
"transcript": "ENST00000963379.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 355,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2223,
"cdna_start": null,
"cds_end": null,
"cds_length": 1068,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000925983.1",
"gene_hgnc_id": 16165,
"gene_symbol": "DSN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596042.1",
"strand": false,
"transcript": "ENST00000925983.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 350,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1934,
"cdna_start": null,
"cds_end": null,
"cds_length": 1053,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000863309.1",
"gene_hgnc_id": 16165,
"gene_symbol": "DSN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533368.1",
"strand": false,
"transcript": "ENST00000863309.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 344,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": null,
"cds_end": null,
"cds_length": 1035,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000863305.1",
"gene_hgnc_id": 16165,
"gene_symbol": "DSN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533364.1",
"strand": false,
"transcript": "ENST00000863305.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 344,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1930,
"cdna_start": null,
"cds_end": null,
"cds_length": 1035,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000863308.1",
"gene_hgnc_id": 16165,
"gene_symbol": "DSN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533367.1",
"strand": false,
"transcript": "ENST00000863308.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 344,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4298,
"cdna_start": null,
"cds_end": null,
"cds_length": 1035,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000925991.1",
"gene_hgnc_id": 16165,
"gene_symbol": "DSN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596050.1",
"strand": false,
"transcript": "ENST00000925991.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 340,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2132,
"cdna_start": null,
"cds_end": null,
"cds_length": 1023,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001145318.2",
"gene_hgnc_id": 16165,
"gene_symbol": "DSN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138790.1",
"strand": false,
"transcript": "NM_001145318.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 340,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2129,
"cdna_start": null,
"cds_end": null,
"cds_length": 1023,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000448110.6",
"gene_hgnc_id": 16165,
"gene_symbol": "DSN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404463.1",
"strand": false,
"transcript": "ENST00000448110.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 337,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2151,
"cdna_start": null,
"cds_end": null,
"cds_length": 1014,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000925992.1",
"gene_hgnc_id": 16165,
"gene_symbol": "DSN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596051.1",
"strand": false,
"transcript": "ENST00000925992.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2280,
"cdna_start": null,
"cds_end": null,
"cds_length": 936,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000925990.1",
"gene_hgnc_id": 16165,
"gene_symbol": "DSN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596049.1",
"strand": false,
"transcript": "ENST00000925990.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 307,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2043,
"cdna_start": null,
"cds_end": null,
"cds_length": 924,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000925988.1",
"gene_hgnc_id": 16165,
"gene_symbol": "DSN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596047.1",
"strand": false,
"transcript": "ENST00000925988.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 295,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2189,
"cdna_start": null,
"cds_end": null,
"cds_length": 888,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000925985.1",
"gene_hgnc_id": 16165,
"gene_symbol": "DSN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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