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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: 5-132392576-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132392576&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC22A5",
"hgnc_id": 10969,
"hgvs_c": "c.1483C>T",
"hgvs_p": "p.Arg495Cys",
"inheritance_mode": "AR",
"pathogenic_score": 22,
"score": 22,
"transcript": "NM_001308122.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_score": 22,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.8384,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.28,
"chr": "5",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Decreased circulating carnitine concentration,Renal carnitine transport defect,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 LP:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9649198055267334,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 557,
"aa_ref": "R",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3277,
"cdna_start": 1674,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1411,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_003060.4",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000245407.8",
"protein_coding": true,
"protein_id": "NP_003051.1",
"strand": true,
"transcript": "NM_003060.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 557,
"aa_ref": "R",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3277,
"cdna_start": 1674,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1411,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000245407.8",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003060.4",
"protein_coding": true,
"protein_id": "ENSP00000245407.3",
"strand": true,
"transcript": "ENST00000245407.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 581,
"aa_ref": "R",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": 1639,
"cds_end": null,
"cds_length": 1746,
"cds_start": 1483,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000435065.7",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.1483C>T",
"hgvs_p": "p.Arg495Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402760.2",
"strand": true,
"transcript": "ENST00000435065.7",
"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": 2656,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000448810.6",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "n.*263C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000401860.2",
"strand": true,
"transcript": "ENST00000448810.6",
"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": 2656,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000448810.6",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "n.*263C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000401860.2",
"strand": true,
"transcript": "ENST00000448810.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3385,
"cdna_start": 1780,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1597,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000893301.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.1597C>T",
"hgvs_p": "p.Arg533Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563360.1",
"strand": true,
"transcript": "ENST00000893301.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 581,
"aa_ref": "R",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3349,
"cdna_start": 1746,
"cds_end": null,
"cds_length": 1746,
"cds_start": 1483,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001308122.2",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.1483C>T",
"hgvs_p": "p.Arg495Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295051.1",
"strand": true,
"transcript": "NM_001308122.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 575,
"aa_ref": "R",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3306,
"cdna_start": 1701,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1465,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000893299.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.1465C>T",
"hgvs_p": "p.Arg489Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563358.1",
"strand": true,
"transcript": "ENST00000893299.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 573,
"aa_ref": "R",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3146,
"cdna_start": 1593,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1459,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000693308.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.1459C>T",
"hgvs_p": "p.Arg487Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509770.1",
"strand": true,
"transcript": "ENST00000693308.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 572,
"aa_ref": "R",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3267,
"cdna_start": 1662,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1456,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000893300.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.1456C>T",
"hgvs_p": "p.Arg486Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563359.1",
"strand": true,
"transcript": "ENST00000893300.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 565,
"aa_ref": "R",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3190,
"cdna_start": 1588,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1435,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000893302.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.1435C>T",
"hgvs_p": "p.Arg479Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563361.1",
"strand": true,
"transcript": "ENST00000893302.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 565,
"aa_ref": "R",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3270,
"cdna_start": 1668,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1435,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000953171.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.1435C>T",
"hgvs_p": "p.Arg479Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623230.1",
"strand": true,
"transcript": "ENST00000953171.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 556,
"aa_ref": "R",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3240,
"cdna_start": 1638,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1408,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000938827.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.1408C>T",
"hgvs_p": "p.Arg470Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608886.1",
"strand": true,
"transcript": "ENST00000938827.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 551,
"aa_ref": "R",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3080,
"cdna_start": 1527,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1393,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000692413.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.1393C>T",
"hgvs_p": "p.Arg465Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509374.1",
"strand": true,
"transcript": "ENST00000692413.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 541,
"aa_ref": "R",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3231,
"cdna_start": 1626,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1363,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000893296.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Arg455Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563355.1",
"strand": true,
"transcript": "ENST00000893296.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 530,
"aa_ref": "R",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3190,
"cdna_start": 1668,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1411,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000893297.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.1411C>T",
"hgvs_p": "p.Arg471Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563356.1",
"strand": true,
"transcript": "ENST00000893297.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 528,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3105,
"cdna_start": 1500,
"cds_end": null,
"cds_length": 1587,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000953172.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.1324C>T",
"hgvs_p": "p.Arg442Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623231.1",
"strand": true,
"transcript": "ENST00000953172.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 521,
"aa_ref": "R",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2510,
"cdna_start": 1542,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1303,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000938829.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Arg435Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608888.1",
"strand": true,
"transcript": "ENST00000938829.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 506,
"aa_ref": "R",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2945,
"cdna_start": 1392,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000689271.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Arg420Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510797.1",
"strand": true,
"transcript": "ENST00000689271.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 504,
"aa_ref": "R",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3093,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 1515,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000893298.1",
"gene_hgnc_id": 10969,
"gene_symbol": "SLC22A5",
"hgvs_c": "c.1252C>T",
"hgvs_p": "p.Arg418Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563357.1",
"strand": true,
"transcript": "ENST00000893298.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 431,
"aa_ref": "R",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1873,
"cdna_start": 1386,
"cds_end": null,
"cds_length": 1296,
"cds_start": 1252,
"consequences": [
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"protein_coding": false,
"protein_id": "ENSP00000509447.1",
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"transcript": "ENST00000692825.1",
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}
],
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"dbsnp": "rs749282641",
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"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"phenotype_combined": "Renal carnitine transport defect|not provided|Decreased circulating carnitine concentration",
"phylop100way_prediction": "Benign",
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"ref": "C",
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"splice_prediction_selected": "Benign",
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"splice_source_selected": "max_spliceai",
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}
]
}