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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: 5-132392484-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132392484&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC22A5",
"hgnc_id": 10969,
"hgvs_c": "c.1391C>T",
"hgvs_p": "p.Thr464Met",
"inheritance_mode": "AR",
"pathogenic_score": 20,
"score": 20,
"transcript": "NM_001308122.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PP3_Strong,PP5_Very_Strong",
"acmg_score": 20,
"allele_count_reference_population": 19,
"alphamissense_prediction": null,
"alphamissense_score": 0.5863,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.44,
"chr": "5",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Decreased circulating carnitine concentration,Inborn genetic diseases,Renal carnitine transport defect,SLC22A5-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:15",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9869243502616882,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 557,
"aa_ref": "T",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3277,
"cdna_start": 1582,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1319,
"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.1319C>T",
"hgvs_p": "p.Thr440Met",
"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": "M",
"aa_end": null,
"aa_length": 557,
"aa_ref": "T",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3277,
"cdna_start": 1582,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1319,
"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.1319C>T",
"hgvs_p": "p.Thr440Met",
"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": "M",
"aa_end": null,
"aa_length": 581,
"aa_ref": "T",
"aa_start": 464,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": 1547,
"cds_end": null,
"cds_length": 1746,
"cds_start": 1391,
"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.1391C>T",
"hgvs_p": "p.Thr464Met",
"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.*171C>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.*171C>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": "M",
"aa_end": null,
"aa_length": 619,
"aa_ref": "T",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3385,
"cdna_start": 1688,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1505,
"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.1505C>T",
"hgvs_p": "p.Thr502Met",
"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": "M",
"aa_end": null,
"aa_length": 581,
"aa_ref": "T",
"aa_start": 464,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3349,
"cdna_start": 1654,
"cds_end": null,
"cds_length": 1746,
"cds_start": 1391,
"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.1391C>T",
"hgvs_p": "p.Thr464Met",
"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": "M",
"aa_end": null,
"aa_length": 575,
"aa_ref": "T",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3306,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1373,
"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.1373C>T",
"hgvs_p": "p.Thr458Met",
"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": "M",
"aa_end": null,
"aa_length": 573,
"aa_ref": "T",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3146,
"cdna_start": 1501,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1367,
"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.1367C>T",
"hgvs_p": "p.Thr456Met",
"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": "M",
"aa_end": null,
"aa_length": 572,
"aa_ref": "T",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3267,
"cdna_start": 1570,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1364,
"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.1364C>T",
"hgvs_p": "p.Thr455Met",
"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": "M",
"aa_end": null,
"aa_length": 565,
"aa_ref": "T",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3190,
"cdna_start": 1496,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1343,
"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.1343C>T",
"hgvs_p": "p.Thr448Met",
"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": "M",
"aa_end": null,
"aa_length": 565,
"aa_ref": "T",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3270,
"cdna_start": 1576,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1343,
"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.1343C>T",
"hgvs_p": "p.Thr448Met",
"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": "M",
"aa_end": null,
"aa_length": 556,
"aa_ref": "T",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3240,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1316,
"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.1316C>T",
"hgvs_p": "p.Thr439Met",
"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": "M",
"aa_end": null,
"aa_length": 551,
"aa_ref": "T",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3080,
"cdna_start": 1435,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1301,
"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.1301C>T",
"hgvs_p": "p.Thr434Met",
"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": "M",
"aa_end": null,
"aa_length": 541,
"aa_ref": "T",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3231,
"cdna_start": 1534,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1271,
"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.1271C>T",
"hgvs_p": "p.Thr424Met",
"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": "M",
"aa_end": null,
"aa_length": 530,
"aa_ref": "T",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3190,
"cdna_start": 1576,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1319,
"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.1319C>T",
"hgvs_p": "p.Thr440Met",
"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": "M",
"aa_end": null,
"aa_length": 528,
"aa_ref": "T",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3105,
"cdna_start": 1408,
"cds_end": null,
"cds_length": 1587,
"cds_start": 1232,
"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.1232C>T",
"hgvs_p": "p.Thr411Met",
"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": "M",
"aa_end": null,
"aa_length": 521,
"aa_ref": "T",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2510,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1211,
"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.1211C>T",
"hgvs_p": "p.Thr404Met",
"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": "M",
"aa_end": null,
"aa_length": 506,
"aa_ref": "T",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2945,
"cdna_start": 1300,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1166,
"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.1166C>T",
"hgvs_p": "p.Thr389Met",
"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": "M",
"aa_end": null,
"aa_length": 504,
"aa_ref": "T",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3093,
"cdna_start": 1399,
"cds_end": null,
"cds_length": 1515,
"cds_start": 1160,
"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.1160C>T",
"hgvs_p": "p.Thr387Met",
"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": "M",
"aa_end": null,
"aa_length": 431,
"aa_ref": "T",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1873,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 1296,
"cds_start": 1160,
"consequences": [
"missense_variant"
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"protein_coding": false,
"protein_id": "ENSP00000509447.1",
"strand": true,
"transcript": "ENST00000692825.1",
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}
],
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"dbsnp": "rs72552732",
"effect": "missense_variant",
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"mitotip_prediction": null,
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"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Renal carnitine transport defect|not provided|Inborn genetic diseases|SLC22A5-related disorder|Decreased circulating carnitine concentration",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.542,
"pos": 132392484,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.792,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_001308122.2"
}
]
}