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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: 19-58554195-CCC-GCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=58554195&ref=CCC&alt=GCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CHMP2A",
"hgnc_id": 30216,
"hgvs_c": "c.16_18delGGGinsCGC",
"hgvs_p": "p.Gly6Arg",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_014453.4",
"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": "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": "R",
"aa_end": null,
"aa_length": 222,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 894,
"cdna_start": 160,
"cds_end": null,
"cds_length": 669,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014453.4",
"gene_hgnc_id": 30216,
"gene_symbol": "CHMP2A",
"hgvs_c": "c.16_18delGGGinsCGC",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000312547.7",
"protein_coding": true,
"protein_id": "NP_055268.1",
"strand": false,
"transcript": "NM_014453.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 222,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 894,
"cdna_start": 160,
"cds_end": null,
"cds_length": 669,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000312547.7",
"gene_hgnc_id": 30216,
"gene_symbol": "CHMP2A",
"hgvs_c": "c.16_18delGGGinsCGC",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014453.4",
"protein_coding": true,
"protein_id": "ENSP00000310440.1",
"strand": false,
"transcript": "ENST00000312547.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 222,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1055,
"cdna_start": 207,
"cds_end": null,
"cds_length": 669,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000600118.6",
"gene_hgnc_id": 30216,
"gene_symbol": "CHMP2A",
"hgvs_c": "c.16_18delGGGinsCGC",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469240.1",
"strand": false,
"transcript": "ENST00000600118.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 222,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 885,
"cdna_start": 151,
"cds_end": null,
"cds_length": 669,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000601220.5",
"gene_hgnc_id": 30216,
"gene_symbol": "CHMP2A",
"hgvs_c": "c.16_18delGGGinsCGC",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472680.1",
"strand": false,
"transcript": "ENST00000601220.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 265,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1014,
"cdna_start": 151,
"cds_end": null,
"cds_length": 798,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000600006.6",
"gene_hgnc_id": 30216,
"gene_symbol": "CHMP2A",
"hgvs_c": "c.16_18delGGGinsCGC",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472097.2",
"strand": false,
"transcript": "ENST00000600006.6",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 265,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1680,
"cdna_start": 819,
"cds_end": null,
"cds_length": 798,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884949.1",
"gene_hgnc_id": 30216,
"gene_symbol": "CHMP2A",
"hgvs_c": "c.16_18delGGGinsCGC",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555008.1",
"strand": false,
"transcript": "ENST00000884949.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 265,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1021,
"cdna_start": 159,
"cds_end": null,
"cds_length": 798,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884958.1",
"gene_hgnc_id": 30216,
"gene_symbol": "CHMP2A",
"hgvs_c": "c.16_18delGGGinsCGC",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555017.1",
"strand": false,
"transcript": "ENST00000884958.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 265,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1114,
"cdna_start": 251,
"cds_end": null,
"cds_length": 798,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917470.1",
"gene_hgnc_id": 30216,
"gene_symbol": "CHMP2A",
"hgvs_c": "c.16_18delGGGinsCGC",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587529.1",
"strand": false,
"transcript": "ENST00000917470.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 265,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1070,
"cdna_start": 206,
"cds_end": null,
"cds_length": 798,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917473.1",
"gene_hgnc_id": 30216,
"gene_symbol": "CHMP2A",
"hgvs_c": "c.16_18delGGGinsCGC",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587532.1",
"strand": false,
"transcript": "ENST00000917473.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 265,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1211,
"cdna_start": 348,
"cds_end": null,
"cds_length": 798,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917474.1",
"gene_hgnc_id": 30216,
"gene_symbol": "CHMP2A",
"hgvs_c": "c.16_18delGGGinsCGC",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587533.1",
"strand": false,
"transcript": "ENST00000917474.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 237,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 955,
"cdna_start": 177,
"cds_end": null,
"cds_length": 714,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884953.1",
"gene_hgnc_id": 30216,
"gene_symbol": "CHMP2A",
"hgvs_c": "c.16_18delGGGinsCGC",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555012.1",
"strand": false,
"transcript": "ENST00000884953.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 237,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 959,
"cdna_start": 182,
"cds_end": null,
"cds_length": 714,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944519.1",
"gene_hgnc_id": 30216,
"gene_symbol": "CHMP2A",
"hgvs_c": "c.16_18delGGGinsCGC",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614578.1",
"strand": false,
"transcript": "ENST00000944519.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 222,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1017,
"cdna_start": 283,
"cds_end": null,
"cds_length": 669,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_198426.3",
"gene_hgnc_id": 30216,
"gene_symbol": "CHMP2A",
"hgvs_c": "c.16_18delGGGinsCGC",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_940818.1",
"strand": false,
"transcript": "NM_198426.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 222,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1074,
"cdna_start": 226,
"cds_end": null,
"cds_length": 669,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000596708.2",
"gene_hgnc_id": 30216,
"gene_symbol": "CHMP2A",
"hgvs_c": "c.16_18delGGGinsCGC",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471961.2",
"strand": false,
"transcript": "ENST00000596708.2",
"transcript_support_level": 3
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 222,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1208,
"cdna_start": 360,
"cds_end": null,
"cds_length": 669,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000597848.2",
"gene_hgnc_id": 30216,
"gene_symbol": "CHMP2A",
"hgvs_c": "c.16_18delGGGinsCGC",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469453.2",
"strand": false,
"transcript": "ENST00000597848.2",
"transcript_support_level": 3
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 222,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 908,
"cdna_start": 174,
"cds_end": null,
"cds_length": 669,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884944.1",
"gene_hgnc_id": 30216,
"gene_symbol": "CHMP2A",
"hgvs_c": "c.16_18delGGGinsCGC",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555003.1",
"strand": false,
"transcript": "ENST00000884944.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 222,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 984,
"cdna_start": 252,
"cds_end": null,
"cds_length": 669,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884947.1",
"gene_hgnc_id": 30216,
"gene_symbol": "CHMP2A",
"hgvs_c": "c.16_18delGGGinsCGC",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555006.1",
"strand": false,
"transcript": "ENST00000884947.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 222,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 919,
"cdna_start": 182,
"cds_end": null,
"cds_length": 669,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884948.1",
"gene_hgnc_id": 30216,
"gene_symbol": "CHMP2A",
"hgvs_c": "c.16_18delGGGinsCGC",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555007.1",
"strand": false,
"transcript": "ENST00000884948.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 222,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1359,
"cdna_start": 627,
"cds_end": null,
"cds_length": 669,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884950.1",
"gene_hgnc_id": 30216,
"gene_symbol": "CHMP2A",
"hgvs_c": "c.16_18delGGGinsCGC",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555009.1",
"strand": false,
"transcript": "ENST00000884950.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 222,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 960,
"cdna_start": 227,
"cds_end": null,
"cds_length": 669,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884952.1",
"gene_hgnc_id": 30216,
"gene_symbol": "CHMP2A",
"hgvs_c": "c.16_18delGGGinsCGC",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555011.1",
"strand": false,
"transcript": "ENST00000884952.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 222,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 958,
"cdna_start": 225,
"cds_end": null,
"cds_length": 669,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884954.1",
"gene_hgnc_id": 30216,
"gene_symbol": "CHMP2A",
"hgvs_c": "c.16_18delGGGinsCGC",
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