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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: 11-66565856-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66565856&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CTSF",
"hgnc_id": 2531,
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Gly313Gly",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_003793.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 2172,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "11",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Inborn genetic diseases,Neuronal ceroid lipofuscinosis 13,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0010000000474974513,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 484,
"aa_ref": "G",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2044,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1455,
"cds_start": 939,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_003793.4",
"gene_hgnc_id": 2531,
"gene_symbol": "CTSF",
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Gly313Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000310325.10",
"protein_coding": true,
"protein_id": "NP_003784.2",
"strand": false,
"transcript": "NM_003793.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 484,
"aa_ref": "G",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2044,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1455,
"cds_start": 939,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000310325.10",
"gene_hgnc_id": 2531,
"gene_symbol": "CTSF",
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Gly313Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003793.4",
"protein_coding": true,
"protein_id": "ENSP00000310832.5",
"strand": false,
"transcript": "ENST00000310325.10",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 505,
"aa_ref": "G",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2139,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1518,
"cds_start": 939,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000679347.1",
"gene_hgnc_id": 2531,
"gene_symbol": "CTSF",
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Gly313Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503676.1",
"strand": false,
"transcript": "ENST00000679347.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 504,
"aa_ref": "G",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2136,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1515,
"cds_start": 939,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000677005.1",
"gene_hgnc_id": 2531,
"gene_symbol": "CTSF",
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Gly313Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503238.1",
"strand": false,
"transcript": "ENST00000677005.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 498,
"aa_ref": "G",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2086,
"cdna_start": 1101,
"cds_end": null,
"cds_length": 1497,
"cds_start": 981,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000677587.1",
"gene_hgnc_id": 2531,
"gene_symbol": "CTSF",
"hgvs_c": "c.981G>A",
"hgvs_p": "p.Gly327Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503791.1",
"strand": false,
"transcript": "ENST00000677587.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 492,
"aa_ref": "G",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2036,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1479,
"cds_start": 939,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000678872.1",
"gene_hgnc_id": 2531,
"gene_symbol": "CTSF",
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Gly313Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503425.1",
"strand": false,
"transcript": "ENST00000678872.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 483,
"aa_ref": "G",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1709,
"cdna_start": 1056,
"cds_end": null,
"cds_length": 1452,
"cds_start": 936,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000524994.6",
"gene_hgnc_id": 2531,
"gene_symbol": "CTSF",
"hgvs_c": "c.936G>A",
"hgvs_p": "p.Gly312Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433082.2",
"strand": false,
"transcript": "ENST00000524994.6",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 483,
"aa_ref": "G",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2014,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1452,
"cds_start": 939,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000678471.1",
"gene_hgnc_id": 2531,
"gene_symbol": "CTSF",
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Gly313Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502949.1",
"strand": false,
"transcript": "ENST00000678471.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 481,
"aa_ref": "G",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2035,
"cdna_start": 1050,
"cds_end": null,
"cds_length": 1446,
"cds_start": 930,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000677896.1",
"gene_hgnc_id": 2531,
"gene_symbol": "CTSF",
"hgvs_c": "c.930G>A",
"hgvs_p": "p.Gly310Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504605.1",
"strand": false,
"transcript": "ENST00000677896.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 479,
"aa_ref": "G",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2061,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1440,
"cds_start": 939,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000679024.1",
"gene_hgnc_id": 2531,
"gene_symbol": "CTSF",
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Gly313Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503506.1",
"strand": false,
"transcript": "ENST00000679024.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 479,
"aa_ref": "G",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 1440,
"cds_start": 924,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000942857.1",
"gene_hgnc_id": 2531,
"gene_symbol": "CTSF",
"hgvs_c": "c.924G>A",
"hgvs_p": "p.Gly308Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612916.1",
"strand": false,
"transcript": "ENST00000942857.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 461,
"aa_ref": "G",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1942,
"cdna_start": 957,
"cds_end": null,
"cds_length": 1386,
"cds_start": 870,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000878096.1",
"gene_hgnc_id": 2531,
"gene_symbol": "CTSF",
"hgvs_c": "c.870G>A",
"hgvs_p": "p.Gly290Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548155.1",
"strand": false,
"transcript": "ENST00000878096.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 460,
"aa_ref": "G",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1971,
"cdna_start": 986,
"cds_end": null,
"cds_length": 1383,
"cds_start": 867,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000678305.1",
"gene_hgnc_id": 2531,
"gene_symbol": "CTSF",
"hgvs_c": "c.867G>A",
"hgvs_p": "p.Gly289Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504383.1",
"strand": false,
"transcript": "ENST00000678305.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 459,
"aa_ref": "G",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1938,
"cdna_start": 953,
"cds_end": null,
"cds_length": 1380,
"cds_start": 864,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000679160.1",
"gene_hgnc_id": 2531,
"gene_symbol": "CTSF",
"hgvs_c": "c.864G>A",
"hgvs_p": "p.Gly288Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503972.1",
"strand": false,
"transcript": "ENST00000679160.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 457,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1961,
"cdna_start": 1056,
"cds_end": null,
"cds_length": 1374,
"cds_start": 939,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000878093.1",
"gene_hgnc_id": 2531,
"gene_symbol": "CTSF",
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Gly313Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548152.1",
"strand": false,
"transcript": "ENST00000878093.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 451,
"aa_ref": "G",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1886,
"cdna_start": 905,
"cds_end": null,
"cds_length": 1356,
"cds_start": 840,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000878097.1",
"gene_hgnc_id": 2531,
"gene_symbol": "CTSF",
"hgvs_c": "c.840G>A",
"hgvs_p": "p.Gly280Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548156.1",
"strand": false,
"transcript": "ENST00000878097.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 432,
"aa_ref": "G",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1857,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 1299,
"cds_start": 939,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000942856.1",
"gene_hgnc_id": 2531,
"gene_symbol": "CTSF",
"hgvs_c": "c.939G>A",
"hgvs_p": "p.Gly313Gly",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612915.1",
"strand": false,
"transcript": "ENST00000942856.1",
"transcript_support_level": null
},
{
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"aa_length": 414,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1805,
"cdna_start": 823,
"cds_end": null,
"cds_length": 1245,
"cds_start": 729,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000878095.1",
"gene_hgnc_id": 2531,
"gene_symbol": "CTSF",
"hgvs_c": "c.729G>A",
"hgvs_p": "p.Gly243Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548154.1",
"strand": false,
"transcript": "ENST00000878095.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 392,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1873,
"cdna_start": 888,
"cds_end": null,
"cds_length": 1179,
"cds_start": 663,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000526010.2",
"gene_hgnc_id": 2531,
"gene_symbol": "CTSF",
"hgvs_c": "c.663G>A",
"hgvs_p": "p.Gly221Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435822.2",
"strand": false,
"transcript": "ENST00000526010.2",
"transcript_support_level": 4
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 424,
"aa_ref": "G",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": 1162,
"cds_end": null,
"cds_length": 1275,
"cds_start": 759,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011545328.3",
"gene_hgnc_id": 2531,
"gene_symbol": "CTSF",
"hgvs_c": "c.759G>A",
"hgvs_p": "p.Gly253Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543630.1",
"strand": false,
"transcript": "XM_011545328.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 441,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1887,
"cdna_start": null,
"cds_end": null,
"cds_length": 1326,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878094.1",
"gene_hgnc_id": 2531,
"gene_symbol": "CTSF",
"hgvs_c": "c.836-105G>A",
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}