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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: 20-45899640-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=45899640&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 45899640,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006227.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1264G>C",
"hgvs_p": "p.Val422Leu",
"transcript": "NM_006227.4",
"protein_id": "NP_006218.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 493,
"cds_start": 1264,
"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": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1264G>C",
"hgvs_p": "p.Val422Leu",
"transcript": "ENST00000372431.8",
"protein_id": "ENSP00000361508.3",
"transcript_support_level": 1,
"aa_start": 422,
"aa_end": null,
"aa_length": 493,
"cds_start": 1264,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1264G>C",
"hgvs_p": "p.Val422Leu",
"transcript": "ENST00000477313.5",
"protein_id": "ENSP00000417138.1",
"transcript_support_level": 1,
"aa_start": 422,
"aa_end": null,
"aa_length": 493,
"cds_start": 1264,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1108G>C",
"hgvs_p": "p.Val370Leu",
"transcript": "ENST00000354050.8",
"protein_id": "ENSP00000335290.4",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 441,
"cds_start": 1108,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1348G>C",
"hgvs_p": "p.Val450Leu",
"transcript": "ENST00000932732.1",
"protein_id": "ENSP00000602791.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 521,
"cds_start": 1348,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1312G>C",
"hgvs_p": "p.Val438Leu",
"transcript": "ENST00000958186.1",
"protein_id": "ENSP00000628245.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 509,
"cds_start": 1312,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1279G>C",
"hgvs_p": "p.Val427Leu",
"transcript": "ENST00000958185.1",
"protein_id": "ENSP00000628244.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 498,
"cds_start": 1279,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1264G>C",
"hgvs_p": "p.Val422Leu",
"transcript": "ENST00000958184.1",
"protein_id": "ENSP00000628243.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 493,
"cds_start": 1264,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1264G>C",
"hgvs_p": "p.Val422Leu",
"transcript": "ENST00000958190.1",
"protein_id": "ENSP00000628249.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 493,
"cds_start": 1264,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1249G>C",
"hgvs_p": "p.Val417Leu",
"transcript": "ENST00000867284.1",
"protein_id": "ENSP00000537343.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 488,
"cds_start": 1249,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1249G>C",
"hgvs_p": "p.Val417Leu",
"transcript": "ENST00000958188.1",
"protein_id": "ENSP00000628247.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 488,
"cds_start": 1249,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1234G>C",
"hgvs_p": "p.Val412Leu",
"transcript": "ENST00000932731.1",
"protein_id": "ENSP00000602790.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 483,
"cds_start": 1234,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1204G>C",
"hgvs_p": "p.Val402Leu",
"transcript": "ENST00000958187.1",
"protein_id": "ENSP00000628246.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 473,
"cds_start": 1204,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1264G>C",
"hgvs_p": "p.Val422Leu",
"transcript": "ENST00000932736.1",
"protein_id": "ENSP00000602795.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 454,
"cds_start": 1264,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1108G>C",
"hgvs_p": "p.Val370Leu",
"transcript": "NM_182676.3",
"protein_id": "NP_872617.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 441,
"cds_start": 1108,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1108G>C",
"hgvs_p": "p.Val370Leu",
"transcript": "ENST00000867287.1",
"protein_id": "ENSP00000537346.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 441,
"cds_start": 1108,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1108G>C",
"hgvs_p": "p.Val370Leu",
"transcript": "ENST00000867289.1",
"protein_id": "ENSP00000537348.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 441,
"cds_start": 1108,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1099G>C",
"hgvs_p": "p.Val367Leu",
"transcript": "ENST00000867286.1",
"protein_id": "ENSP00000537345.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 438,
"cds_start": 1099,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1093G>C",
"hgvs_p": "p.Val365Leu",
"transcript": "ENST00000932735.1",
"protein_id": "ENSP00000602794.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 436,
"cds_start": 1093,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1078G>C",
"hgvs_p": "p.Val360Leu",
"transcript": "ENST00000932734.1",
"protein_id": "ENSP00000602793.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 431,
"cds_start": 1078,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1027G>C",
"hgvs_p": "p.Val343Leu",
"transcript": "ENST00000867285.1",
"protein_id": "ENSP00000537344.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 414,
"cds_start": 1027,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLTP",
"gene_hgnc_id": 9093,
"hgvs_c": "c.1000G>C",
"hgvs_p": "p.Val334Leu",
"transcript": "NM_001242921.1",
"protein_id": "NP_001229850.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 405,
"cds_start": 1000,
"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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}