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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: 19-56222180-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=56222180&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZSCAN5A",
"hgnc_id": 23710,
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ser296Cys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_024303.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 131,
"alphamissense_prediction": null,
"alphamissense_score": 0.1444,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.007597386837005615,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 496,
"aa_ref": "S",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2151,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 1491,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001322064.3",
"gene_hgnc_id": 23710,
"gene_symbol": "ZSCAN5A",
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ser296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000683990.1",
"protein_coding": true,
"protein_id": "NP_001308993.1",
"strand": false,
"transcript": "NM_001322064.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 496,
"aa_ref": "S",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2151,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 1491,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000683990.1",
"gene_hgnc_id": 23710,
"gene_symbol": "ZSCAN5A",
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ser296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001322064.3",
"protein_coding": true,
"protein_id": "ENSP00000507065.1",
"strand": false,
"transcript": "ENST00000683990.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 496,
"aa_ref": "S",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3562,
"cdna_start": 1052,
"cds_end": null,
"cds_length": 1491,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000391713.5",
"gene_hgnc_id": 23710,
"gene_symbol": "ZSCAN5A",
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ser296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375593.1",
"strand": false,
"transcript": "ENST00000391713.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 496,
"aa_ref": "S",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2450,
"cdna_start": 1582,
"cds_end": null,
"cds_length": 1491,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000587340.5",
"gene_hgnc_id": 23710,
"gene_symbol": "ZSCAN5A",
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ser296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467631.1",
"strand": false,
"transcript": "ENST00000587340.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 496,
"aa_ref": "S",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2026,
"cdna_start": 1149,
"cds_end": null,
"cds_length": 1491,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001322065.3",
"gene_hgnc_id": 23710,
"gene_symbol": "ZSCAN5A",
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ser296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308994.1",
"strand": false,
"transcript": "NM_001322065.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 496,
"aa_ref": "S",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2088,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 1491,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001322066.2",
"gene_hgnc_id": 23710,
"gene_symbol": "ZSCAN5A",
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ser296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308995.1",
"strand": false,
"transcript": "NM_001322066.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 496,
"aa_ref": "S",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2009,
"cdna_start": 1132,
"cds_end": null,
"cds_length": 1491,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001322067.2",
"gene_hgnc_id": 23710,
"gene_symbol": "ZSCAN5A",
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ser296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308996.1",
"strand": false,
"transcript": "NM_001322067.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 496,
"aa_ref": "S",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2134,
"cdna_start": 1257,
"cds_end": null,
"cds_length": 1491,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001322068.2",
"gene_hgnc_id": 23710,
"gene_symbol": "ZSCAN5A",
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ser296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308997.1",
"strand": false,
"transcript": "NM_001322068.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 496,
"aa_ref": "S",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1963,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1491,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001322070.2",
"gene_hgnc_id": 23710,
"gene_symbol": "ZSCAN5A",
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ser296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308999.1",
"strand": false,
"transcript": "NM_001322070.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 496,
"aa_ref": "S",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1491,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001322072.3",
"gene_hgnc_id": 23710,
"gene_symbol": "ZSCAN5A",
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ser296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309001.1",
"strand": false,
"transcript": "NM_001322072.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 496,
"aa_ref": "S",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2212,
"cdna_start": 1335,
"cds_end": null,
"cds_length": 1491,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001387853.1",
"gene_hgnc_id": 23710,
"gene_symbol": "ZSCAN5A",
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ser296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374782.1",
"strand": false,
"transcript": "NM_001387853.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 496,
"aa_ref": "S",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2087,
"cdna_start": 1210,
"cds_end": null,
"cds_length": 1491,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001387857.1",
"gene_hgnc_id": 23710,
"gene_symbol": "ZSCAN5A",
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ser296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374786.1",
"strand": false,
"transcript": "NM_001387857.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 496,
"aa_ref": "S",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2276,
"cdna_start": 1399,
"cds_end": null,
"cds_length": 1491,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001387859.1",
"gene_hgnc_id": 23710,
"gene_symbol": "ZSCAN5A",
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ser296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374788.1",
"strand": false,
"transcript": "NM_001387859.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 496,
"aa_ref": "S",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2195,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 1491,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_024303.4",
"gene_hgnc_id": 23710,
"gene_symbol": "ZSCAN5A",
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ser296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_077279.1",
"strand": false,
"transcript": "NM_024303.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 496,
"aa_ref": "S",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3630,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 1491,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000891613.1",
"gene_hgnc_id": 23710,
"gene_symbol": "ZSCAN5A",
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ser296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561672.1",
"strand": false,
"transcript": "ENST00000891613.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 496,
"aa_ref": "S",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 1491,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000891614.1",
"gene_hgnc_id": 23710,
"gene_symbol": "ZSCAN5A",
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ser296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561673.1",
"strand": false,
"transcript": "ENST00000891614.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 496,
"aa_ref": "S",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2188,
"cdna_start": 1313,
"cds_end": null,
"cds_length": 1491,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000891616.1",
"gene_hgnc_id": 23710,
"gene_symbol": "ZSCAN5A",
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ser296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561675.1",
"strand": false,
"transcript": "ENST00000891616.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 496,
"aa_ref": "S",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2122,
"cdna_start": 1252,
"cds_end": null,
"cds_length": 1491,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000928141.1",
"gene_hgnc_id": 23710,
"gene_symbol": "ZSCAN5A",
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ser296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598200.1",
"strand": false,
"transcript": "ENST00000928141.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 496,
"aa_ref": "S",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1971,
"cdna_start": 1094,
"cds_end": null,
"cds_length": 1491,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000928142.1",
"gene_hgnc_id": 23710,
"gene_symbol": "ZSCAN5A",
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ser296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598201.1",
"strand": false,
"transcript": "ENST00000928142.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 496,
"aa_ref": "S",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2207,
"cdna_start": 1337,
"cds_end": null,
"cds_length": 1491,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000928143.1",
"gene_hgnc_id": 23710,
"gene_symbol": "ZSCAN5A",
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ser296Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598202.1",
"strand": false,
"transcript": "ENST00000928143.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 496,
"aa_ref": "S",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2186,
"cdna_start": 1316,
"cds_end": null,
"cds_length": 1491,
"cds_start": 886,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000928144.1",
"gene_hgnc_id": 23710,
"gene_symbol": "ZSCAN5A",
"hgvs_c": "c.886A>T",
"hgvs_p": "p.Ser296Cys",
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