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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: 5-132392599-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132392599&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 132392599,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001308122.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1434C>T",
"hgvs_p": "p.Pro478Pro",
"transcript": "NM_003060.4",
"protein_id": "NP_003051.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 557,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000245407.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003060.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1434C>T",
"hgvs_p": "p.Pro478Pro",
"transcript": "ENST00000245407.8",
"protein_id": "ENSP00000245407.3",
"transcript_support_level": 1,
"aa_start": 478,
"aa_end": null,
"aa_length": 557,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003060.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245407.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1506C>T",
"hgvs_p": "p.Pro502Pro",
"transcript": "ENST00000435065.7",
"protein_id": "ENSP00000402760.2",
"transcript_support_level": 1,
"aa_start": 502,
"aa_end": null,
"aa_length": 581,
"cds_start": 1506,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435065.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "n.*286C>T",
"hgvs_p": null,
"transcript": "ENST00000448810.6",
"protein_id": "ENSP00000401860.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000448810.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "n.*286C>T",
"hgvs_p": null,
"transcript": "ENST00000448810.6",
"protein_id": "ENSP00000401860.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000448810.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1620C>T",
"hgvs_p": "p.Pro540Pro",
"transcript": "ENST00000893301.1",
"protein_id": "ENSP00000563360.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 619,
"cds_start": 1620,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893301.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1506C>T",
"hgvs_p": "p.Pro502Pro",
"transcript": "NM_001308122.2",
"protein_id": "NP_001295051.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 581,
"cds_start": 1506,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308122.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1488C>T",
"hgvs_p": "p.Pro496Pro",
"transcript": "ENST00000893299.1",
"protein_id": "ENSP00000563358.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 575,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893299.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1482C>T",
"hgvs_p": "p.Pro494Pro",
"transcript": "ENST00000693308.1",
"protein_id": "ENSP00000509770.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 573,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693308.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1479C>T",
"hgvs_p": "p.Pro493Pro",
"transcript": "ENST00000893300.1",
"protein_id": "ENSP00000563359.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 572,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893300.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1458C>T",
"hgvs_p": "p.Pro486Pro",
"transcript": "ENST00000893302.1",
"protein_id": "ENSP00000563361.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 565,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893302.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1458C>T",
"hgvs_p": "p.Pro486Pro",
"transcript": "ENST00000953171.1",
"protein_id": "ENSP00000623230.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 565,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953171.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1431C>T",
"hgvs_p": "p.Pro477Pro",
"transcript": "ENST00000938827.1",
"protein_id": "ENSP00000608886.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 556,
"cds_start": 1431,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938827.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1416C>T",
"hgvs_p": "p.Pro472Pro",
"transcript": "ENST00000692413.1",
"protein_id": "ENSP00000509374.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 551,
"cds_start": 1416,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692413.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1386C>T",
"hgvs_p": "p.Pro462Pro",
"transcript": "ENST00000893296.1",
"protein_id": "ENSP00000563355.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 541,
"cds_start": 1386,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893296.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1434C>T",
"hgvs_p": "p.Pro478Pro",
"transcript": "ENST00000893297.1",
"protein_id": "ENSP00000563356.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 530,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893297.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1347C>T",
"hgvs_p": "p.Pro449Pro",
"transcript": "ENST00000953172.1",
"protein_id": "ENSP00000623231.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 528,
"cds_start": 1347,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953172.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1326C>T",
"hgvs_p": "p.Pro442Pro",
"transcript": "ENST00000938829.1",
"protein_id": "ENSP00000608888.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 521,
"cds_start": 1326,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938829.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1281C>T",
"hgvs_p": "p.Pro427Pro",
"transcript": "ENST00000689271.1",
"protein_id": "ENSP00000510797.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 506,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689271.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1275C>T",
"hgvs_p": "p.Pro425Pro",
"transcript": "ENST00000893298.1",
"protein_id": "ENSP00000563357.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 504,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893298.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.1275C>T",
"hgvs_p": "p.Pro425Pro",
"transcript": "ENST00000415928.6",
"protein_id": "ENSP00000388838.2",
"transcript_support_level": 5,
"aa_start": 425,
"aa_end": null,
"aa_length": 431,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415928.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A5",
"gene_hgnc_id": 10969,
"hgvs_c": "c.906C>T",
"hgvs_p": "p.Pro302Pro",
"transcript": "XM_017009778.3",
"protein_id": "XP_016865267.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 381,
"cds_start": 906,
"cds_end": null,
"cds_length": 1146,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.711,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001308122.2",
"gene_symbol": "SLC22A5",
"hgnc_id": 10969,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1506C>T",
"hgvs_p": "p.Pro502Pro"
}
],
"clinvar_disease": "Renal carnitine transport defect,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"phenotype_combined": "not specified|Renal carnitine transport defect|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}