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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: 9-129095434-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=129095434&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CRAT",
"hgnc_id": 2342,
"hgvs_c": "c.1847G>C",
"hgvs_p": "p.Arg616Pro",
"inheritance_mode": "Unknown,AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001346546.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.944,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.21,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.930732011795044,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 626,
"aa_ref": "R",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2768,
"cdna_start": 2128,
"cds_end": null,
"cds_length": 1881,
"cds_start": 1844,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_000755.5",
"gene_hgnc_id": 2342,
"gene_symbol": "CRAT",
"hgvs_c": "c.1844G>C",
"hgvs_p": "p.Arg615Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000318080.7",
"protein_coding": true,
"protein_id": "NP_000746.3",
"strand": false,
"transcript": "NM_000755.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 626,
"aa_ref": "R",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2768,
"cdna_start": 2128,
"cds_end": null,
"cds_length": 1881,
"cds_start": 1844,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000318080.7",
"gene_hgnc_id": 2342,
"gene_symbol": "CRAT",
"hgvs_c": "c.1844G>C",
"hgvs_p": "p.Arg615Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000755.5",
"protein_coding": true,
"protein_id": "ENSP00000315013.2",
"strand": false,
"transcript": "ENST00000318080.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2253,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000458362.5",
"gene_hgnc_id": 2342,
"gene_symbol": "CRAT",
"hgvs_c": "n.*1820G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000400367.1",
"strand": false,
"transcript": "ENST00000458362.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2253,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000458362.5",
"gene_hgnc_id": 2342,
"gene_symbol": "CRAT",
"hgvs_c": "n.*1820G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000400367.1",
"strand": false,
"transcript": "ENST00000458362.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 673,
"aa_ref": "R",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2775,
"cdna_start": 2137,
"cds_end": null,
"cds_length": 2022,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000943969.1",
"gene_hgnc_id": 2342,
"gene_symbol": "CRAT",
"hgvs_c": "c.1985G>C",
"hgvs_p": "p.Arg662Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614028.1",
"strand": false,
"transcript": "ENST00000943969.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 636,
"aa_ref": "R",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2752,
"cdna_start": 2114,
"cds_end": null,
"cds_length": 1911,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000943961.1",
"gene_hgnc_id": 2342,
"gene_symbol": "CRAT",
"hgvs_c": "c.1874G>C",
"hgvs_p": "p.Arg625Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614020.1",
"strand": false,
"transcript": "ENST00000943961.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 627,
"aa_ref": "R",
"aa_start": 616,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2943,
"cdna_start": 2303,
"cds_end": null,
"cds_length": 1884,
"cds_start": 1847,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001346546.2",
"gene_hgnc_id": 2342,
"gene_symbol": "CRAT",
"hgvs_c": "c.1847G>C",
"hgvs_p": "p.Arg616Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333475.2",
"strand": false,
"transcript": "NM_001346546.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 626,
"aa_ref": "R",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2940,
"cdna_start": 2303,
"cds_end": null,
"cds_length": 1881,
"cds_start": 1844,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000943957.1",
"gene_hgnc_id": 2342,
"gene_symbol": "CRAT",
"hgvs_c": "c.1844G>C",
"hgvs_p": "p.Arg615Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614016.1",
"strand": false,
"transcript": "ENST00000943957.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 621,
"aa_ref": "R",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2639,
"cdna_start": 2002,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1829,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000943966.1",
"gene_hgnc_id": 2342,
"gene_symbol": "CRAT",
"hgvs_c": "c.1829G>C",
"hgvs_p": "p.Arg610Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614025.1",
"strand": false,
"transcript": "ENST00000943966.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 617,
"aa_ref": "R",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2609,
"cdna_start": 1971,
"cds_end": null,
"cds_length": 1854,
"cds_start": 1817,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000943967.1",
"gene_hgnc_id": 2342,
"gene_symbol": "CRAT",
"hgvs_c": "c.1817G>C",
"hgvs_p": "p.Arg606Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614026.1",
"strand": false,
"transcript": "ENST00000943967.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 612,
"aa_ref": "R",
"aa_start": 601,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2654,
"cdna_start": 2018,
"cds_end": null,
"cds_length": 1839,
"cds_start": 1802,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000943963.1",
"gene_hgnc_id": 2342,
"gene_symbol": "CRAT",
"hgvs_c": "c.1802G>C",
"hgvs_p": "p.Arg601Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614022.1",
"strand": false,
"transcript": "ENST00000943963.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 608,
"aa_ref": "R",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2706,
"cdna_start": 2066,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1790,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000868875.1",
"gene_hgnc_id": 2342,
"gene_symbol": "CRAT",
"hgvs_c": "c.1790G>C",
"hgvs_p": "p.Arg597Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538934.1",
"strand": false,
"transcript": "ENST00000868875.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 608,
"aa_ref": "R",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2704,
"cdna_start": 2064,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1790,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000868877.1",
"gene_hgnc_id": 2342,
"gene_symbol": "CRAT",
"hgvs_c": "c.1790G>C",
"hgvs_p": "p.Arg597Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538936.1",
"strand": false,
"transcript": "ENST00000868877.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 606,
"aa_ref": "R",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2700,
"cdna_start": 2060,
"cds_end": null,
"cds_length": 1821,
"cds_start": 1784,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000868876.1",
"gene_hgnc_id": 2342,
"gene_symbol": "CRAT",
"hgvs_c": "c.1784G>C",
"hgvs_p": "p.Arg595Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538935.1",
"strand": false,
"transcript": "ENST00000868876.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 605,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2867,
"cdna_start": 2227,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001257363.3",
"gene_hgnc_id": 2342,
"gene_symbol": "CRAT",
"hgvs_c": "c.1781G>C",
"hgvs_p": "p.Arg594Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244292.2",
"strand": false,
"transcript": "NM_001257363.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 605,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3147,
"cdna_start": 2507,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_004003.4",
"gene_hgnc_id": 2342,
"gene_symbol": "CRAT",
"hgvs_c": "c.1781G>C",
"hgvs_p": "p.Arg594Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003994.3",
"strand": false,
"transcript": "NM_004003.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 605,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2572,
"cdna_start": 1934,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000943968.1",
"gene_hgnc_id": 2342,
"gene_symbol": "CRAT",
"hgvs_c": "c.1781G>C",
"hgvs_p": "p.Arg594Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614027.1",
"strand": false,
"transcript": "ENST00000943968.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 604,
"aa_ref": "R",
"aa_start": 593,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2683,
"cdna_start": 2045,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1778,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000943959.1",
"gene_hgnc_id": 2342,
"gene_symbol": "CRAT",
"hgvs_c": "c.1778G>C",
"hgvs_p": "p.Arg593Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614018.1",
"strand": false,
"transcript": "ENST00000943959.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 602,
"aa_ref": "R",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2696,
"cdna_start": 2056,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1772,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001346547.2",
"gene_hgnc_id": 2342,
"gene_symbol": "CRAT",
"hgvs_c": "c.1772G>C",
"hgvs_p": "p.Arg591Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333476.2",
"strand": false,
"transcript": "NM_001346547.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 602,
"aa_ref": "R",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2623,
"cdna_start": 2000,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1772,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000681627.1",
"gene_hgnc_id": 2342,
"gene_symbol": "CRAT",
"hgvs_c": "c.1772G>C",
"hgvs_p": "p.Arg591Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506267.1",
"strand": false,
"transcript": "ENST00000681627.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 594,
"aa_ref": "R",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2644,
"cdna_start": 2007,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1748,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000868878.1",
"gene_hgnc_id": 2342,
"gene_symbol": "CRAT",
"hgvs_c": "c.1748G>C",
"hgvs_p": "p.Arg583Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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