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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: 10-89433261-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=89433261&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 89433261,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_213606.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1354T>C",
"hgvs_p": "p.Phe452Leu",
"transcript": "NM_213606.4",
"protein_id": "NP_998771.3",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 516,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1693,
"cdna_end": null,
"cdna_length": 4655,
"mane_select": "ENST00000371790.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213606.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1354T>C",
"hgvs_p": "p.Phe452Leu",
"transcript": "ENST00000371790.5",
"protein_id": "ENSP00000360855.4",
"transcript_support_level": 2,
"aa_start": 452,
"aa_end": null,
"aa_length": 516,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1693,
"cdna_end": null,
"cdna_length": 4655,
"mane_select": "NM_213606.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371790.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1354T>C",
"hgvs_p": "p.Phe452Leu",
"transcript": "ENST00000899673.1",
"protein_id": "ENSP00000569732.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 516,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1957,
"cdna_end": null,
"cdna_length": 5044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899673.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1354T>C",
"hgvs_p": "p.Phe452Leu",
"transcript": "ENST00000899674.1",
"protein_id": "ENSP00000569733.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 516,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1856,
"cdna_end": null,
"cdna_length": 4818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899674.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1354T>C",
"hgvs_p": "p.Phe452Leu",
"transcript": "ENST00000899675.1",
"protein_id": "ENSP00000569734.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 516,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1930,
"cdna_end": null,
"cdna_length": 4890,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899675.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1354T>C",
"hgvs_p": "p.Phe452Leu",
"transcript": "ENST00000899677.1",
"protein_id": "ENSP00000569736.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 516,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 4570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899677.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1354T>C",
"hgvs_p": "p.Phe452Leu",
"transcript": "ENST00000899678.1",
"protein_id": "ENSP00000569737.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 516,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 4748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899678.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1354T>C",
"hgvs_p": "p.Phe452Leu",
"transcript": "ENST00000899679.1",
"protein_id": "ENSP00000569738.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 516,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 4678,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899679.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1354T>C",
"hgvs_p": "p.Phe452Leu",
"transcript": "ENST00000899680.1",
"protein_id": "ENSP00000569739.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 516,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 4574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899680.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1354T>C",
"hgvs_p": "p.Phe452Leu",
"transcript": "ENST00000899681.1",
"protein_id": "ENSP00000569740.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 516,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1730,
"cdna_end": null,
"cdna_length": 4692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899681.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1354T>C",
"hgvs_p": "p.Phe452Leu",
"transcript": "ENST00000899682.1",
"protein_id": "ENSP00000569741.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 516,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1794,
"cdna_end": null,
"cdna_length": 4755,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899682.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1354T>C",
"hgvs_p": "p.Phe452Leu",
"transcript": "ENST00000899683.1",
"protein_id": "ENSP00000569742.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 516,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 3955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899683.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1354T>C",
"hgvs_p": "p.Phe452Leu",
"transcript": "ENST00000899684.1",
"protein_id": "ENSP00000569743.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 516,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1871,
"cdna_end": null,
"cdna_length": 3967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899684.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1354T>C",
"hgvs_p": "p.Phe452Leu",
"transcript": "ENST00000899685.1",
"protein_id": "ENSP00000569744.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 516,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 4513,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899685.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1354T>C",
"hgvs_p": "p.Phe452Leu",
"transcript": "ENST00000899686.1",
"protein_id": "ENSP00000569745.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 516,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 4568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899686.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1354T>C",
"hgvs_p": "p.Phe452Leu",
"transcript": "ENST00000924870.1",
"protein_id": "ENSP00000594929.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 516,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 4493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924870.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1354T>C",
"hgvs_p": "p.Phe452Leu",
"transcript": "ENST00000951865.1",
"protein_id": "ENSP00000621924.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 516,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1739,
"cdna_end": null,
"cdna_length": 4699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951865.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.1354T>C",
"hgvs_p": "p.Phe452Leu",
"transcript": "ENST00000951866.1",
"protein_id": "ENSP00000621925.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 516,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1643,
"cdna_end": null,
"cdna_length": 4603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951866.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu",
"transcript": "ENST00000899676.1",
"protein_id": "ENSP00000569735.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 240,
"cds_start": 526,
"cds_end": null,
"cds_length": 723,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899676.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu",
"transcript": "ENST00000924871.1",
"protein_id": "ENSP00000594930.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 240,
"cds_start": 526,
"cds_end": null,
"cds_length": 723,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 3595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924871.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu",
"transcript": "ENST00000924872.1",
"protein_id": "ENSP00000594931.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 240,
"cds_start": 526,
"cds_end": null,
"cds_length": 723,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 3680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924872.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A12",
"gene_hgnc_id": 23094,
"hgvs_c": "c.526T>C",
"hgvs_p": "p.Phe176Leu",
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{
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],
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"phenotype_combined": "Juvenile cataract-microcornea-renal glucosuria syndrome",
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}
],
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}