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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: 1-11965590-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11965590&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 11965590,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001316320.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1581C>G",
"hgvs_p": "p.Pro527Pro",
"transcript": "NM_000302.4",
"protein_id": "NP_000293.2",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 727,
"cds_start": 1581,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000196061.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000302.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1581C>G",
"hgvs_p": "p.Pro527Pro",
"transcript": "ENST00000196061.5",
"protein_id": "ENSP00000196061.4",
"transcript_support_level": 1,
"aa_start": 527,
"aa_end": null,
"aa_length": 727,
"cds_start": 1581,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000302.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000196061.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1725C>G",
"hgvs_p": "p.Pro575Pro",
"transcript": "ENST00000854019.1",
"protein_id": "ENSP00000524078.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 775,
"cds_start": 1725,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854019.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1722C>G",
"hgvs_p": "p.Pro574Pro",
"transcript": "NM_001316320.2",
"protein_id": "NP_001303249.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 774,
"cds_start": 1722,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316320.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1668C>G",
"hgvs_p": "p.Pro556Pro",
"transcript": "ENST00000854031.1",
"protein_id": "ENSP00000524090.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 756,
"cds_start": 1668,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854031.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1668C>G",
"hgvs_p": "p.Pro556Pro",
"transcript": "ENST00000854033.1",
"protein_id": "ENSP00000524092.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 756,
"cds_start": 1668,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854033.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1620C>G",
"hgvs_p": "p.Pro540Pro",
"transcript": "ENST00000960558.1",
"protein_id": "ENSP00000630617.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 740,
"cds_start": 1620,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960558.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1608C>G",
"hgvs_p": "p.Pro536Pro",
"transcript": "ENST00000854021.1",
"protein_id": "ENSP00000524080.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 736,
"cds_start": 1608,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854021.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1581C>G",
"hgvs_p": "p.Pro527Pro",
"transcript": "ENST00000934212.1",
"protein_id": "ENSP00000604271.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 734,
"cds_start": 1581,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934212.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1578C>G",
"hgvs_p": "p.Pro526Pro",
"transcript": "ENST00000854027.1",
"protein_id": "ENSP00000524086.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 726,
"cds_start": 1578,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854027.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1575C>G",
"hgvs_p": "p.Pro525Pro",
"transcript": "ENST00000854022.1",
"protein_id": "ENSP00000524081.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 725,
"cds_start": 1575,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854022.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1581C>G",
"hgvs_p": "p.Pro527Pro",
"transcript": "ENST00000854026.1",
"protein_id": "ENSP00000524085.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 725,
"cds_start": 1581,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854026.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1575C>G",
"hgvs_p": "p.Pro525Pro",
"transcript": "ENST00000854028.1",
"protein_id": "ENSP00000524087.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 725,
"cds_start": 1575,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854028.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1548C>G",
"hgvs_p": "p.Pro516Pro",
"transcript": "ENST00000854032.1",
"protein_id": "ENSP00000524091.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 716,
"cds_start": 1548,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854032.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1581C>G",
"hgvs_p": "p.Pro527Pro",
"transcript": "ENST00000934214.1",
"protein_id": "ENSP00000604273.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 714,
"cds_start": 1581,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934214.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1536C>G",
"hgvs_p": "p.Pro512Pro",
"transcript": "ENST00000854029.1",
"protein_id": "ENSP00000524088.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 712,
"cds_start": 1536,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854029.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1506C>G",
"hgvs_p": "p.Pro502Pro",
"transcript": "ENST00000854023.1",
"protein_id": "ENSP00000524082.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 702,
"cds_start": 1506,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854023.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1479C>G",
"hgvs_p": "p.Pro493Pro",
"transcript": "ENST00000854030.1",
"protein_id": "ENSP00000524089.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 693,
"cds_start": 1479,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854030.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1581C>G",
"hgvs_p": "p.Pro527Pro",
"transcript": "ENST00000934210.1",
"protein_id": "ENSP00000604269.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 692,
"cds_start": 1581,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934210.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1455C>G",
"hgvs_p": "p.Pro485Pro",
"transcript": "ENST00000854024.1",
"protein_id": "ENSP00000524083.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 685,
"cds_start": 1455,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854024.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1581C>G",
"hgvs_p": "p.Pro527Pro",
"transcript": "ENST00000960559.1",
"protein_id": "ENSP00000630618.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 685,
"cds_start": 1581,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960559.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLOD1",
"gene_hgnc_id": 9081,
"hgvs_c": "c.1581C>G",
"hgvs_p": "p.Pro527Pro",
"transcript": "ENST00000854020.1",
"protein_id": "ENSP00000524079.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 678,
"cds_start": 1581,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -3,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001316320.2",
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"effects": [
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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
}