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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: 4-174303709-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=174303709&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 174303709,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001145314.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP44",
"gene_hgnc_id": 29356,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "NM_001040157.3",
"protein_id": "NP_001035247.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 390,
"cds_start": 244,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000503780.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040157.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP44",
"gene_hgnc_id": 29356,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "ENST00000503780.6",
"protein_id": "ENSP00000423153.1",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 390,
"cds_start": 244,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001040157.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503780.6"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP44",
"gene_hgnc_id": 29356,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "ENST00000296519.6",
"protein_id": "ENSP00000296519.4",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 390,
"cds_start": 244,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296519.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP44",
"gene_hgnc_id": 29356,
"hgvs_c": "n.244C>T",
"hgvs_p": null,
"transcript": "ENST00000396791.7",
"protein_id": "ENSP00000380009.3",
"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": "ENST00000396791.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP44",
"gene_hgnc_id": 29356,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "NM_001145314.2",
"protein_id": "NP_001138786.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 399,
"cds_start": 244,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145314.2"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP44",
"gene_hgnc_id": 29356,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "ENST00000426172.3",
"protein_id": "ENSP00000408221.1",
"transcript_support_level": 5,
"aa_start": 82,
"aa_end": null,
"aa_length": 399,
"cds_start": 244,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426172.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP44",
"gene_hgnc_id": 29356,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "ENST00000457424.6",
"protein_id": "ENSP00000389427.2",
"transcript_support_level": 2,
"aa_start": 82,
"aa_end": null,
"aa_length": 399,
"cds_start": 244,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457424.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP44",
"gene_hgnc_id": 29356,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "ENST00000853407.1",
"protein_id": "ENSP00000523466.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 390,
"cds_start": 244,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853407.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP44",
"gene_hgnc_id": 29356,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "ENST00000853409.1",
"protein_id": "ENSP00000523468.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 390,
"cds_start": 244,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853409.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP44",
"gene_hgnc_id": 29356,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "ENST00000927478.1",
"protein_id": "ENSP00000597537.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 390,
"cds_start": 244,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927478.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP44",
"gene_hgnc_id": 29356,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "ENST00000927479.1",
"protein_id": "ENSP00000597538.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 390,
"cds_start": 244,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927479.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP44",
"gene_hgnc_id": 29356,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "ENST00000927480.1",
"protein_id": "ENSP00000597539.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 390,
"cds_start": 244,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927480.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP44",
"gene_hgnc_id": 29356,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "ENST00000927482.1",
"protein_id": "ENSP00000597541.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 390,
"cds_start": 244,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927482.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP44",
"gene_hgnc_id": 29356,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "ENST00000961153.1",
"protein_id": "ENSP00000631212.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 390,
"cds_start": 244,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961153.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP44",
"gene_hgnc_id": 29356,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "ENST00000853408.1",
"protein_id": "ENSP00000523467.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 389,
"cds_start": 244,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853408.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP44",
"gene_hgnc_id": 29356,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "ENST00000927481.1",
"protein_id": "ENSP00000597540.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 389,
"cds_start": 244,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927481.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP44",
"gene_hgnc_id": 29356,
"hgvs_c": "c.52C>T",
"hgvs_p": "p.Arg18Cys",
"transcript": "ENST00000927483.1",
"protein_id": "ENSP00000597542.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 326,
"cds_start": 52,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927483.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP44",
"gene_hgnc_id": 29356,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "ENST00000515299.5",
"protein_id": "ENSP00000421128.1",
"transcript_support_level": 5,
"aa_start": 82,
"aa_end": null,
"aa_length": 197,
"cds_start": 244,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515299.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP44",
"gene_hgnc_id": 29356,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "ENST00000503053.5",
"protein_id": "ENSP00000423922.1",
"transcript_support_level": 5,
"aa_start": 82,
"aa_end": null,
"aa_length": 138,
"cds_start": 244,
"cds_end": null,
"cds_length": 418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503053.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP44",
"gene_hgnc_id": 29356,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "ENST00000514712.5",
"protein_id": "ENSP00000423949.1",
"transcript_support_level": 4,
"aa_start": 82,
"aa_end": null,
"aa_length": 111,
"cds_start": 244,
"cds_end": null,
"cds_length": 337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514712.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP44",
"gene_hgnc_id": 29356,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "ENST00000505124.5",
"protein_id": "ENSP00000427337.1",
"transcript_support_level": 4,
"aa_start": 82,
"aa_end": null,
"aa_length": 111,
"cds_start": 244,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505124.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP44",
"gene_hgnc_id": 29356,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Cys",
"transcript": "XM_011532285.3",
"protein_id": "XP_011530587.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 399,
"cds_start": 244,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532285.3"
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"phenotype_combined": "not specified",
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}
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}