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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: 3-53819011-ACT-GCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=53819011&ref=ACT&alt=GCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CHDH",
"hgnc_id": 24288,
"hgvs_c": "c.1291_1293delAGTinsCGC",
"hgvs_p": "p.Ser431Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_018397.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"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": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "S",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7694,
"cdna_start": 1760,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_018397.5",
"gene_hgnc_id": 24288,
"gene_symbol": "CHDH",
"hgvs_c": "c.1291_1293delAGTinsCGC",
"hgvs_p": "p.Ser431Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000315251.11",
"protein_coding": true,
"protein_id": "NP_060867.2",
"strand": false,
"transcript": "NM_018397.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "S",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7694,
"cdna_start": 1760,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000315251.11",
"gene_hgnc_id": 24288,
"gene_symbol": "CHDH",
"hgvs_c": "c.1291_1293delAGTinsCGC",
"hgvs_p": "p.Ser431Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018397.5",
"protein_coding": true,
"protein_id": "ENSP00000319851.5",
"strand": false,
"transcript": "ENST00000315251.11",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 595,
"aa_ref": "S",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3708,
"cdna_start": 1800,
"cds_end": null,
"cds_length": 1788,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875879.1",
"gene_hgnc_id": 24288,
"gene_symbol": "CHDH",
"hgvs_c": "c.1294_1296delAGTinsCGC",
"hgvs_p": "p.Ser432Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545938.1",
"strand": false,
"transcript": "ENST00000875879.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 595,
"aa_ref": "S",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3437,
"cdna_start": 2009,
"cds_end": null,
"cds_length": 1788,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875888.1",
"gene_hgnc_id": 24288,
"gene_symbol": "CHDH",
"hgvs_c": "c.1294_1296delAGTinsCGC",
"hgvs_p": "p.Ser432Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545947.1",
"strand": false,
"transcript": "ENST00000875888.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 595,
"aa_ref": "S",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3183,
"cdna_start": 1778,
"cds_end": null,
"cds_length": 1788,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875889.1",
"gene_hgnc_id": 24288,
"gene_symbol": "CHDH",
"hgvs_c": "c.1294_1296delAGTinsCGC",
"hgvs_p": "p.Ser432Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545948.1",
"strand": false,
"transcript": "ENST00000875889.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 595,
"aa_ref": "S",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3488,
"cdna_start": 1590,
"cds_end": null,
"cds_length": 1788,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875892.1",
"gene_hgnc_id": 24288,
"gene_symbol": "CHDH",
"hgvs_c": "c.1294_1296delAGTinsCGC",
"hgvs_p": "p.Ser432Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545951.1",
"strand": false,
"transcript": "ENST00000875892.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 595,
"aa_ref": "S",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3792,
"cdna_start": 1896,
"cds_end": null,
"cds_length": 1788,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959581.1",
"gene_hgnc_id": 24288,
"gene_symbol": "CHDH",
"hgvs_c": "c.1294_1296delAGTinsCGC",
"hgvs_p": "p.Ser432Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629640.1",
"strand": false,
"transcript": "ENST00000959581.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "S",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3967,
"cdna_start": 2058,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875878.1",
"gene_hgnc_id": 24288,
"gene_symbol": "CHDH",
"hgvs_c": "c.1291_1293delAGTinsCGC",
"hgvs_p": "p.Ser431Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545937.1",
"strand": false,
"transcript": "ENST00000875878.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "S",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3732,
"cdna_start": 1825,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875881.1",
"gene_hgnc_id": 24288,
"gene_symbol": "CHDH",
"hgvs_c": "c.1291_1293delAGTinsCGC",
"hgvs_p": "p.Ser431Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545940.1",
"strand": false,
"transcript": "ENST00000875881.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "S",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4004,
"cdna_start": 2105,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875882.1",
"gene_hgnc_id": 24288,
"gene_symbol": "CHDH",
"hgvs_c": "c.1291_1293delAGTinsCGC",
"hgvs_p": "p.Ser431Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545941.1",
"strand": false,
"transcript": "ENST00000875882.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "S",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4019,
"cdna_start": 2122,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875883.1",
"gene_hgnc_id": 24288,
"gene_symbol": "CHDH",
"hgvs_c": "c.1291_1293delAGTinsCGC",
"hgvs_p": "p.Ser431Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545942.1",
"strand": false,
"transcript": "ENST00000875883.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "S",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3334,
"cdna_start": 1906,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875885.1",
"gene_hgnc_id": 24288,
"gene_symbol": "CHDH",
"hgvs_c": "c.1291_1293delAGTinsCGC",
"hgvs_p": "p.Ser431Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545944.1",
"strand": false,
"transcript": "ENST00000875885.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 594,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3470,
"cdna_start": 2042,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875886.1",
"gene_hgnc_id": 24288,
"gene_symbol": "CHDH",
"hgvs_c": "c.1291_1293delAGTinsCGC",
"hgvs_p": "p.Ser431Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545945.1",
"strand": false,
"transcript": "ENST00000875886.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "S",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3301,
"cdna_start": 1873,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875887.1",
"gene_hgnc_id": 24288,
"gene_symbol": "CHDH",
"hgvs_c": "c.1291_1293delAGTinsCGC",
"hgvs_p": "p.Ser431Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545946.1",
"strand": false,
"transcript": "ENST00000875887.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "S",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2951,
"cdna_start": 1523,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875890.1",
"gene_hgnc_id": 24288,
"gene_symbol": "CHDH",
"hgvs_c": "c.1291_1293delAGTinsCGC",
"hgvs_p": "p.Ser431Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545949.1",
"strand": false,
"transcript": "ENST00000875890.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "S",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3495,
"cdna_start": 1592,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875891.1",
"gene_hgnc_id": 24288,
"gene_symbol": "CHDH",
"hgvs_c": "c.1291_1293delAGTinsCGC",
"hgvs_p": "p.Ser431Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545950.1",
"strand": false,
"transcript": "ENST00000875891.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "S",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3261,
"cdna_start": 1833,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875893.1",
"gene_hgnc_id": 24288,
"gene_symbol": "CHDH",
"hgvs_c": "c.1291_1293delAGTinsCGC",
"hgvs_p": "p.Ser431Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545952.1",
"strand": false,
"transcript": "ENST00000875893.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "S",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 1671,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875895.1",
"gene_hgnc_id": 24288,
"gene_symbol": "CHDH",
"hgvs_c": "c.1291_1293delAGTinsCGC",
"hgvs_p": "p.Ser431Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545954.1",
"strand": false,
"transcript": "ENST00000875895.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "S",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3396,
"cdna_start": 1968,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911851.1",
"gene_hgnc_id": 24288,
"gene_symbol": "CHDH",
"hgvs_c": "c.1291_1293delAGTinsCGC",
"hgvs_p": "p.Ser431Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581910.1",
"strand": false,
"transcript": "ENST00000911851.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "S",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3723,
"cdna_start": 1882,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959583.1",
"gene_hgnc_id": 24288,
"gene_symbol": "CHDH",
"hgvs_c": "c.1291_1293delAGTinsCGC",
"hgvs_p": "p.Ser431Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629642.1",
"strand": false,
"transcript": "ENST00000959583.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "S",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3120,
"cdna_start": 1692,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959584.1",
"gene_hgnc_id": 24288,
"gene_symbol": "CHDH",
"hgvs_c": "c.1291_1293delAGTinsCGC",
"hgvs_p": "p.Ser431Arg",
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