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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: 2-189754302-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=189754302&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 189754302,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_022353.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Thr218Ile",
"transcript": "NM_022353.3",
"protein_id": "NP_071748.2",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 414,
"cds_start": 653,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": "ENST00000264151.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022353.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Thr218Ile",
"transcript": "ENST00000264151.10",
"protein_id": "ENSP00000264151.5",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 414,
"cds_start": 653,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": "NM_022353.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264151.10"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Thr218Ile",
"transcript": "ENST00000522700.5",
"protein_id": "ENSP00000429697.1",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 414,
"cds_start": 653,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522700.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Thr218Ile",
"transcript": "NM_001354347.2",
"protein_id": "NP_001341276.2",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 414,
"cds_start": 653,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 1998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354347.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Thr218Ile",
"transcript": "NM_001376077.1",
"protein_id": "NP_001363006.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 414,
"cds_start": 653,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 2073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376077.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Thr218Ile",
"transcript": "NM_001376078.1",
"protein_id": "NP_001363007.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 414,
"cds_start": 653,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376078.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Thr218Ile",
"transcript": "NM_001376079.1",
"protein_id": "NP_001363008.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 414,
"cds_start": 653,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 2191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376079.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Thr218Ile",
"transcript": "NM_001376080.1",
"protein_id": "NP_001363009.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 414,
"cds_start": 653,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376080.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Thr218Ile",
"transcript": "NM_001376081.1",
"protein_id": "NP_001363010.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 414,
"cds_start": 653,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376081.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Thr218Ile",
"transcript": "NM_001376082.1",
"protein_id": "NP_001363011.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 414,
"cds_start": 653,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376082.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Thr218Ile",
"transcript": "NM_001376083.1",
"protein_id": "NP_001363012.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 414,
"cds_start": 653,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376083.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Thr218Ile",
"transcript": "ENST00000868797.1",
"protein_id": "ENSP00000538856.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 414,
"cds_start": 653,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868797.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Thr218Ile",
"transcript": "ENST00000868798.1",
"protein_id": "ENSP00000538857.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 414,
"cds_start": 653,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1808,
"cdna_end": null,
"cdna_length": 3087,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868798.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Thr218Ile",
"transcript": "ENST00000937445.1",
"protein_id": "ENSP00000607504.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 414,
"cds_start": 653,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937445.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Thr218Ile",
"transcript": "ENST00000937446.1",
"protein_id": "ENSP00000607505.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 414,
"cds_start": 653,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937446.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Thr218Ile",
"transcript": "ENST00000937447.1",
"protein_id": "ENSP00000607506.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 414,
"cds_start": 653,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 2914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937447.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Thr218Ile",
"transcript": "NM_001376097.1",
"protein_id": "NP_001363026.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 411,
"cds_start": 653,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376097.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Thr218Ile",
"transcript": "NM_001376098.1",
"protein_id": "NP_001363027.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 400,
"cds_start": 653,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376098.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Thr218Ile",
"transcript": "NM_001376099.1",
"protein_id": "NP_001363028.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 387,
"cds_start": 653,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376099.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Thr218Ile",
"transcript": "NM_001376100.1",
"protein_id": "NP_001363029.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 364,
"cds_start": 653,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376100.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Thr218Ile",
"transcript": "ENST00000519810.5",
"protein_id": "ENSP00000428859.1",
"transcript_support_level": 2,
"aa_start": 218,
"aa_end": null,
"aa_length": 364,
"cds_start": 653,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 2216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519810.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSGEPL1",
"gene_hgnc_id": 23075,
"hgvs_c": "c.212C>T",
"hgvs_p": "p.Thr71Ile",
"transcript": "NM_001376084.1",
"protein_id": "NP_001363013.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 267,
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{
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{
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{
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{
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],
"gene_symbol": "OSGEPL1",
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"dbsnp": "rs2045732841",
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"computational_score_selected": 0.1376579999923706,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.363,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022353.3",
"gene_symbol": "OSGEPL1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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{
"score": 0,
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000441800.5",
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"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}