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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: 19-58085134-T-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=58085134&ref=T&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"exon_region"
],
"gene_symbol": "ZSCAN18",
"hgnc_id": 21037,
"hgvs_c": "c.",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001145542.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intragenic_variant"
],
"gene_symbol": "ZNF135",
"hgnc_id": 12919,
"hgvs_c": "n.",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "",
"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": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"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": 510,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2539,
"cdna_start": null,
"cds_end": null,
"cds_length": 1533,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001145543.2",
"gene_hgnc_id": 21037,
"gene_symbol": "ZSCAN18",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000601144.6",
"protein_coding": true,
"protein_id": "NP_001139015.1",
"strand": false,
"transcript": "NM_001145543.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 510,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2539,
"cdna_start": null,
"cds_end": null,
"cds_length": 1533,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000601144.6",
"gene_hgnc_id": 21037,
"gene_symbol": "ZSCAN18",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001145543.2",
"protein_coding": true,
"protein_id": "ENSP00000468934.1",
"strand": false,
"transcript": "ENST00000601144.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 510,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": null,
"cds_end": null,
"cds_length": 1533,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000240727.10",
"gene_hgnc_id": 21037,
"gene_symbol": "ZSCAN18",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000240727.5",
"strand": false,
"transcript": "ENST00000240727.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 407,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2071,
"cdna_start": null,
"cds_end": null,
"cds_length": 1224,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000433686.6",
"gene_hgnc_id": 21037,
"gene_symbol": "ZSCAN18",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412253.2",
"strand": false,
"transcript": "ENST00000433686.6",
"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": 5729,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000598497.1",
"gene_hgnc_id": 21037,
"gene_symbol": "ZSCAN18",
"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": "ENST00000598497.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 566,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": null,
"cds_end": null,
"cds_length": 1701,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001145542.1",
"gene_hgnc_id": 21037,
"gene_symbol": "ZSCAN18",
"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_001139014.1",
"strand": false,
"transcript": "NM_001145542.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 566,
"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": 1701,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000600404.1",
"gene_hgnc_id": 21037,
"gene_symbol": "ZSCAN18",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470123.1",
"strand": false,
"transcript": "ENST00000600404.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 523,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2615,
"cdna_start": null,
"cds_end": null,
"cds_length": 1572,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000861640.1",
"gene_hgnc_id": 21037,
"gene_symbol": "ZSCAN18",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531699.1",
"strand": false,
"transcript": "ENST00000861640.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 522,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2578,
"cdna_start": null,
"cds_end": null,
"cds_length": 1569,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000932259.1",
"gene_hgnc_id": 21037,
"gene_symbol": "ZSCAN18",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602318.1",
"strand": false,
"transcript": "ENST00000932259.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 510,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2783,
"cdna_start": null,
"cds_end": null,
"cds_length": 1533,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_023926.5",
"gene_hgnc_id": 21037,
"gene_symbol": "ZSCAN18",
"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_076415.3",
"strand": false,
"transcript": "NM_023926.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 510,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2762,
"cdna_start": null,
"cds_end": null,
"cds_length": 1533,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000861637.1",
"gene_hgnc_id": 21037,
"gene_symbol": "ZSCAN18",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531696.1",
"strand": false,
"transcript": "ENST00000861637.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 510,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2697,
"cdna_start": null,
"cds_end": null,
"cds_length": 1533,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000861639.1",
"gene_hgnc_id": 21037,
"gene_symbol": "ZSCAN18",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531698.1",
"strand": false,
"transcript": "ENST00000861639.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 510,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2523,
"cdna_start": null,
"cds_end": null,
"cds_length": 1533,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000861642.1",
"gene_hgnc_id": 21037,
"gene_symbol": "ZSCAN18",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531701.1",
"strand": false,
"transcript": "ENST00000861642.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 510,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2780,
"cdna_start": null,
"cds_end": null,
"cds_length": 1533,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000861643.1",
"gene_hgnc_id": 21037,
"gene_symbol": "ZSCAN18",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531702.1",
"strand": false,
"transcript": "ENST00000861643.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 510,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2694,
"cdna_start": null,
"cds_end": null,
"cds_length": 1533,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000861645.1",
"gene_hgnc_id": 21037,
"gene_symbol": "ZSCAN18",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531704.1",
"strand": false,
"transcript": "ENST00000861645.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 510,
"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": 1533,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000861646.1",
"gene_hgnc_id": 21037,
"gene_symbol": "ZSCAN18",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531705.1",
"strand": false,
"transcript": "ENST00000861646.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 510,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2830,
"cdna_start": null,
"cds_end": null,
"cds_length": 1533,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000861647.1",
"gene_hgnc_id": 21037,
"gene_symbol": "ZSCAN18",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531706.1",
"strand": false,
"transcript": "ENST00000861647.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 510,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2943,
"cdna_start": null,
"cds_end": null,
"cds_length": 1533,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000861648.1",
"gene_hgnc_id": 21037,
"gene_symbol": "ZSCAN18",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531707.1",
"strand": false,
"transcript": "ENST00000861648.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 510,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2575,
"cdna_start": null,
"cds_end": null,
"cds_length": 1533,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000861649.1",
"gene_hgnc_id": 21037,
"gene_symbol": "ZSCAN18",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531708.1",
"strand": false,
"transcript": "ENST00000861649.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 510,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3209,
"cdna_start": null,
"cds_end": null,
"cds_length": 1533,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000861650.1",
"gene_hgnc_id": 21037,
"gene_symbol": "ZSCAN18",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531709.1",
"strand": false,
"transcript": "ENST00000861650.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 510,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2668,
"cdna_start": null,
"cds_end": null,
"cds_length": 1533,
"cds_start": null,
"consequences": [
"exon_region"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000861651.1",
"gene_hgnc_id": 21037,
"gene_symbol": "ZSCAN18",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531710.1",
"strand": false,
"transcript": "ENST00000861651.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 510,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": null,
"cds_end": null,
"cds_length": 1533,
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