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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: 12-47965332-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=47965332&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 47965332,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024056.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM106C",
"gene_hgnc_id": 28775,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "NM_001143842.2",
"protein_id": "NP_001137314.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 250,
"cds_start": 238,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000429772.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143842.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM106C",
"gene_hgnc_id": 28775,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "ENST00000429772.7",
"protein_id": "ENSP00000400471.2",
"transcript_support_level": 2,
"aa_start": 80,
"aa_end": null,
"aa_length": 250,
"cds_start": 238,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001143842.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429772.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM106C",
"gene_hgnc_id": 28775,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "ENST00000552561.5",
"protein_id": "ENSP00000446657.1",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 250,
"cds_start": 238,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552561.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM106C",
"gene_hgnc_id": 28775,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "ENST00000256686.10",
"protein_id": "ENSP00000256686.6",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 231,
"cds_start": 238,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256686.10"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM106C",
"gene_hgnc_id": 28775,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "ENST00000550552.5",
"protein_id": "ENSP00000449737.1",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 231,
"cds_start": 238,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550552.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM106C",
"gene_hgnc_id": 28775,
"hgvs_c": "c.79-546C>T",
"hgvs_p": null,
"transcript": "ENST00000552546.5",
"protein_id": "ENSP00000448268.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 179,
"cds_start": null,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552546.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM106C",
"gene_hgnc_id": 28775,
"hgvs_c": "c.79-546C>T",
"hgvs_p": null,
"transcript": "ENST00000548640.5",
"protein_id": "ENSP00000447254.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": null,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548640.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM106C",
"gene_hgnc_id": 28775,
"hgvs_c": "n.316C>T",
"hgvs_p": null,
"transcript": "ENST00000551305.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000551305.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM106C",
"gene_hgnc_id": 28775,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "NM_024056.4",
"protein_id": "NP_076961.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 250,
"cds_start": 238,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024056.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM106C",
"gene_hgnc_id": 28775,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "ENST00000892981.1",
"protein_id": "ENSP00000563040.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 250,
"cds_start": 238,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892981.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM106C",
"gene_hgnc_id": 28775,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "ENST00000892983.1",
"protein_id": "ENSP00000563042.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 250,
"cds_start": 238,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892983.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM106C",
"gene_hgnc_id": 28775,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "ENST00000932227.1",
"protein_id": "ENSP00000602286.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 250,
"cds_start": 238,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932227.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM106C",
"gene_hgnc_id": 28775,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "ENST00000932228.1",
"protein_id": "ENSP00000602287.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 250,
"cds_start": 238,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932228.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM106C",
"gene_hgnc_id": 28775,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "ENST00000932229.1",
"protein_id": "ENSP00000602288.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 250,
"cds_start": 238,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932229.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM106C",
"gene_hgnc_id": 28775,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "ENST00000948694.1",
"protein_id": "ENSP00000618753.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 250,
"cds_start": 238,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948694.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM106C",
"gene_hgnc_id": 28775,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "ENST00000892978.1",
"protein_id": "ENSP00000563037.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 233,
"cds_start": 238,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892978.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM106C",
"gene_hgnc_id": 28775,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "ENST00000892980.1",
"protein_id": "ENSP00000563039.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 233,
"cds_start": 238,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892980.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM106C",
"gene_hgnc_id": 28775,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "NM_001143841.2",
"protein_id": "NP_001137313.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 231,
"cds_start": 238,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143841.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM106C",
"gene_hgnc_id": 28775,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "NM_001143843.2",
"protein_id": "NP_001137315.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 231,
"cds_start": 238,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143843.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM106C",
"gene_hgnc_id": 28775,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "ENST00000449758.6",
"protein_id": "ENSP00000402705.2",
"transcript_support_level": 2,
"aa_start": 80,
"aa_end": null,
"aa_length": 231,
"cds_start": 238,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449758.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM106C",
"gene_hgnc_id": 28775,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "ENST00000892982.1",
"protein_id": "ENSP00000563041.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 231,
"cds_start": 238,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892982.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM106C",
"gene_hgnc_id": 28775,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Arg80Cys",
"transcript": "ENST00000892984.1",
"protein_id": "ENSP00000563043.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 231,
"cds_start": 238,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892984.1"
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{
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"phenotype_combined": "not specified",
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}
],
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}