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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: 20-45898965-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=45898965&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 45898965,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_006227.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1458C>T",
"hgvs_p": "p.Pro486Pro",
"transcript": "NM_006227.4",
"protein_id": "NP_006218.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 493,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372431.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006227.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1458C>T",
"hgvs_p": "p.Pro486Pro",
"transcript": "ENST00000372431.8",
"protein_id": "ENSP00000361508.3",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 493,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006227.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372431.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1458C>T",
"hgvs_p": "p.Pro486Pro",
"transcript": "ENST00000477313.5",
"protein_id": "ENSP00000417138.1",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 493,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477313.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1302C>T",
"hgvs_p": "p.Pro434Pro",
"transcript": "ENST00000354050.8",
"protein_id": "ENSP00000335290.4",
"transcript_support_level": 1,
"aa_start": 434,
"aa_end": null,
"aa_length": 441,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354050.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1542C>T",
"hgvs_p": "p.Pro514Pro",
"transcript": "ENST00000932732.1",
"protein_id": "ENSP00000602791.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 521,
"cds_start": 1542,
"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": "ENST00000932732.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1506C>T",
"hgvs_p": "p.Pro502Pro",
"transcript": "ENST00000958186.1",
"protein_id": "ENSP00000628245.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 509,
"cds_start": 1506,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958186.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1473C>T",
"hgvs_p": "p.Pro491Pro",
"transcript": "ENST00000958185.1",
"protein_id": "ENSP00000628244.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 498,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958185.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1458C>T",
"hgvs_p": "p.Pro486Pro",
"transcript": "ENST00000958184.1",
"protein_id": "ENSP00000628243.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 493,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958184.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1458C>T",
"hgvs_p": "p.Pro486Pro",
"transcript": "ENST00000958190.1",
"protein_id": "ENSP00000628249.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 493,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958190.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1443C>T",
"hgvs_p": "p.Pro481Pro",
"transcript": "ENST00000867284.1",
"protein_id": "ENSP00000537343.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 488,
"cds_start": 1443,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867284.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1443C>T",
"hgvs_p": "p.Pro481Pro",
"transcript": "ENST00000958188.1",
"protein_id": "ENSP00000628247.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 488,
"cds_start": 1443,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958188.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1428C>T",
"hgvs_p": "p.Pro476Pro",
"transcript": "ENST00000932731.1",
"protein_id": "ENSP00000602790.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 483,
"cds_start": 1428,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932731.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1398C>T",
"hgvs_p": "p.Pro466Pro",
"transcript": "ENST00000958187.1",
"protein_id": "ENSP00000628246.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 473,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958187.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1341C>T",
"hgvs_p": "p.Pro447Pro",
"transcript": "ENST00000932736.1",
"protein_id": "ENSP00000602795.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 454,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932736.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1302C>T",
"hgvs_p": "p.Pro434Pro",
"transcript": "NM_182676.3",
"protein_id": "NP_872617.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 441,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182676.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1302C>T",
"hgvs_p": "p.Pro434Pro",
"transcript": "ENST00000867287.1",
"protein_id": "ENSP00000537346.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 441,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867287.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1302C>T",
"hgvs_p": "p.Pro434Pro",
"transcript": "ENST00000867289.1",
"protein_id": "ENSP00000537348.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 441,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867289.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1293C>T",
"hgvs_p": "p.Pro431Pro",
"transcript": "ENST00000867286.1",
"protein_id": "ENSP00000537345.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 438,
"cds_start": 1293,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867286.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1287C>T",
"hgvs_p": "p.Pro429Pro",
"transcript": "ENST00000932735.1",
"protein_id": "ENSP00000602794.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 436,
"cds_start": 1287,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932735.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1272C>T",
"hgvs_p": "p.Pro424Pro",
"transcript": "ENST00000932734.1",
"protein_id": "ENSP00000602793.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 431,
"cds_start": 1272,
"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": "ENST00000932734.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1221C>T",
"hgvs_p": "p.Pro407Pro",
"transcript": "ENST00000867285.1",
"protein_id": "ENSP00000537344.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 414,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867285.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1194C>T",
"hgvs_p": "p.Pro398Pro",
"transcript": "NM_001242921.1",
"protein_id": "NP_001229850.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 405,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242921.1"
},
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],
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"allele_count_reference_population": 0,
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"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -5,
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{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
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"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_006227.4",
"gene_symbol": "PLTP",
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"effects": [
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],
"inheritance_mode": "AR",
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{
"score": -4,
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"pathogenic_score": 2,
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_000308.4",
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],
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}