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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: 17-48848414-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=48848414&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CALCOCO2",
"hgnc_id": 29912,
"hgvs_c": "c.448C>A",
"hgvs_p": "p.Arg150Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001261390.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000293025",
"hgnc_id": null,
"hgvs_c": "n.227-27595G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000817118.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.3887,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3328593969345093,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 446,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3635,
"cdna_start": 430,
"cds_end": null,
"cds_length": 1341,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_005831.5",
"gene_hgnc_id": 29912,
"gene_symbol": "CALCOCO2",
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Arg126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000258947.8",
"protein_coding": true,
"protein_id": "NP_005822.1",
"strand": true,
"transcript": "NM_005831.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 446,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3635,
"cdna_start": 430,
"cds_end": null,
"cds_length": 1341,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000258947.8",
"gene_hgnc_id": 29912,
"gene_symbol": "CALCOCO2",
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Arg126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005831.5",
"protein_coding": true,
"protein_id": "ENSP00000258947.3",
"strand": true,
"transcript": "ENST00000258947.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 470,
"aa_ref": "R",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3707,
"cdna_start": 502,
"cds_end": null,
"cds_length": 1413,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001261390.2",
"gene_hgnc_id": 29912,
"gene_symbol": "CALCOCO2",
"hgvs_c": "c.448C>A",
"hgvs_p": "p.Arg150Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001248319.1",
"strand": true,
"transcript": "NM_001261390.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 470,
"aa_ref": "R",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6691,
"cdna_start": 503,
"cds_end": null,
"cds_length": 1413,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000448105.7",
"gene_hgnc_id": 29912,
"gene_symbol": "CALCOCO2",
"hgvs_c": "c.448C>A",
"hgvs_p": "p.Arg150Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398523.2",
"strand": true,
"transcript": "ENST00000448105.7",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 467,
"aa_ref": "R",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3698,
"cdna_start": 493,
"cds_end": null,
"cds_length": 1404,
"cds_start": 439,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001261391.2",
"gene_hgnc_id": 29912,
"gene_symbol": "CALCOCO2",
"hgvs_c": "c.439C>A",
"hgvs_p": "p.Arg147Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001248320.1",
"strand": true,
"transcript": "NM_001261391.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 467,
"aa_ref": "R",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1512,
"cdna_start": 502,
"cds_end": null,
"cds_length": 1404,
"cds_start": 439,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000509507.5",
"gene_hgnc_id": 29912,
"gene_symbol": "CALCOCO2",
"hgvs_c": "c.439C>A",
"hgvs_p": "p.Arg147Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424352.1",
"strand": true,
"transcript": "ENST00000509507.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 452,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2412,
"cdna_start": 439,
"cds_end": null,
"cds_length": 1359,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000866561.1",
"gene_hgnc_id": 29912,
"gene_symbol": "CALCOCO2",
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Arg126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536620.1",
"strand": true,
"transcript": "ENST00000866561.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 446,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2012,
"cdna_start": 435,
"cds_end": null,
"cds_length": 1341,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000945215.1",
"gene_hgnc_id": 29912,
"gene_symbol": "CALCOCO2",
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Arg126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615274.1",
"strand": true,
"transcript": "ENST00000945215.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 446,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3265,
"cdna_start": 546,
"cds_end": null,
"cds_length": 1341,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000945217.1",
"gene_hgnc_id": 29912,
"gene_symbol": "CALCOCO2",
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Arg126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615276.1",
"strand": true,
"transcript": "ENST00000945217.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 446,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2381,
"cdna_start": 587,
"cds_end": null,
"cds_length": 1341,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000945221.1",
"gene_hgnc_id": 29912,
"gene_symbol": "CALCOCO2",
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Arg126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615280.1",
"strand": true,
"transcript": "ENST00000945221.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 446,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3358,
"cdna_start": 534,
"cds_end": null,
"cds_length": 1341,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000945222.1",
"gene_hgnc_id": 29912,
"gene_symbol": "CALCOCO2",
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Arg126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615281.1",
"strand": true,
"transcript": "ENST00000945222.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 445,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2295,
"cdna_start": 464,
"cds_end": null,
"cds_length": 1338,
"cds_start": 376,
"consequences": [
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],
"exon_count": 13,
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"feature": "ENST00000945218.1",
"gene_hgnc_id": 29912,
"gene_symbol": "CALCOCO2",
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Arg126Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615277.1",
"strand": true,
"transcript": "ENST00000945218.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2267,
"cdna_start": 435,
"cds_end": null,
"cds_length": 1335,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000945220.1",
"gene_hgnc_id": 29912,
"gene_symbol": "CALCOCO2",
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Arg126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615279.1",
"strand": true,
"transcript": "ENST00000945220.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 443,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3247,
"cdna_start": 432,
"cds_end": null,
"cds_length": 1332,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000945216.1",
"gene_hgnc_id": 29912,
"gene_symbol": "CALCOCO2",
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Arg126Ser",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000615275.1",
"strand": true,
"transcript": "ENST00000945216.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 417,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3195,
"cdna_start": 455,
"cds_end": null,
"cds_length": 1254,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000866560.1",
"gene_hgnc_id": 29912,
"gene_symbol": "CALCOCO2",
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Arg126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536619.1",
"strand": true,
"transcript": "ENST00000866560.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 414,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": 435,
"cds_end": null,
"cds_length": 1245,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000866566.1",
"gene_hgnc_id": 29912,
"gene_symbol": "CALCOCO2",
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Arg126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536625.1",
"strand": true,
"transcript": "ENST00000866566.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 405,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2149,
"cdna_start": 435,
"cds_end": null,
"cds_length": 1218,
"cds_start": 376,
"consequences": [
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],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000866565.1",
"gene_hgnc_id": 29912,
"gene_symbol": "CALCOCO2",
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Arg126Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536624.1",
"strand": true,
"transcript": "ENST00000866565.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3509,
"cdna_start": 430,
"cds_end": null,
"cds_length": 1215,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001261393.2",
"gene_hgnc_id": 29912,
"gene_symbol": "CALCOCO2",
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Arg126Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001248322.1",
"strand": true,
"transcript": "NM_001261393.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 430,
"cds_end": null,
"cds_length": 1215,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000416445.6",
"gene_hgnc_id": 29912,
"gene_symbol": "CALCOCO2",
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Arg126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406974.2",
"strand": true,
"transcript": "ENST00000416445.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 404,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1303,
"cdna_start": 401,
"cds_end": null,
"cds_length": 1215,
"cds_start": 376,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000945223.1",
"gene_hgnc_id": 29912,
"gene_symbol": "CALCOCO2",
"hgvs_c": "c.376C>A",
"hgvs_p": "p.Arg126Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615282.1",
"strand": true,
"transcript": "ENST00000945223.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2182,
"cdna_start": 435,
"cds_end": null,
"cds_length": 1131,
"cds_start": 376,
"consequences": [
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