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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: 1-11965543-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11965543&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 11965543,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001316320.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1534C>T",
"hgvs_p": "p.Arg512Cys",
"transcript": "NM_000302.4",
"protein_id": "NP_000293.2",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 727,
"cds_start": 1534,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 2976,
"mane_select": "ENST00000196061.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000302.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1534C>T",
"hgvs_p": "p.Arg512Cys",
"transcript": "ENST00000196061.5",
"protein_id": "ENSP00000196061.4",
"transcript_support_level": 1,
"aa_start": 512,
"aa_end": null,
"aa_length": 727,
"cds_start": 1534,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 2976,
"mane_select": "NM_000302.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000196061.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1678C>T",
"hgvs_p": "p.Arg560Cys",
"transcript": "ENST00000854019.1",
"protein_id": "ENSP00000524078.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 775,
"cds_start": 1678,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854019.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1675C>T",
"hgvs_p": "p.Arg559Cys",
"transcript": "NM_001316320.2",
"protein_id": "NP_001303249.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 774,
"cds_start": 1675,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 3117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316320.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1621C>T",
"hgvs_p": "p.Arg541Cys",
"transcript": "ENST00000854031.1",
"protein_id": "ENSP00000524090.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 756,
"cds_start": 1621,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1676,
"cdna_end": null,
"cdna_length": 3054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854031.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1621C>T",
"hgvs_p": "p.Arg541Cys",
"transcript": "ENST00000854033.1",
"protein_id": "ENSP00000524092.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 756,
"cds_start": 1621,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 3031,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854033.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1573C>T",
"hgvs_p": "p.Arg525Cys",
"transcript": "ENST00000960558.1",
"protein_id": "ENSP00000630617.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 740,
"cds_start": 1573,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 3014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960558.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1561C>T",
"hgvs_p": "p.Arg521Cys",
"transcript": "ENST00000854021.1",
"protein_id": "ENSP00000524080.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 736,
"cds_start": 1561,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854021.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1534C>T",
"hgvs_p": "p.Arg512Cys",
"transcript": "ENST00000934212.1",
"protein_id": "ENSP00000604271.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 734,
"cds_start": 1534,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1589,
"cdna_end": null,
"cdna_length": 2990,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934212.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1531C>T",
"hgvs_p": "p.Arg511Cys",
"transcript": "ENST00000854027.1",
"protein_id": "ENSP00000524086.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 726,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1600,
"cdna_end": null,
"cdna_length": 2979,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854027.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1528C>T",
"hgvs_p": "p.Arg510Cys",
"transcript": "ENST00000854022.1",
"protein_id": "ENSP00000524081.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 725,
"cds_start": 1528,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1618,
"cdna_end": null,
"cdna_length": 3000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854022.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1534C>T",
"hgvs_p": "p.Arg512Cys",
"transcript": "ENST00000854026.1",
"protein_id": "ENSP00000524085.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 725,
"cds_start": 1534,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 2995,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854026.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1528C>T",
"hgvs_p": "p.Arg510Cys",
"transcript": "ENST00000854028.1",
"protein_id": "ENSP00000524087.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 725,
"cds_start": 1528,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1591,
"cdna_end": null,
"cdna_length": 2972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854028.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1501C>T",
"hgvs_p": "p.Arg501Cys",
"transcript": "ENST00000854032.1",
"protein_id": "ENSP00000524091.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 716,
"cds_start": 1501,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 2930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854032.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1534C>T",
"hgvs_p": "p.Arg512Cys",
"transcript": "ENST00000934214.1",
"protein_id": "ENSP00000604273.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 714,
"cds_start": 1534,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934214.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1489C>T",
"hgvs_p": "p.Arg497Cys",
"transcript": "ENST00000854029.1",
"protein_id": "ENSP00000524088.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 712,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1553,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854029.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1459C>T",
"hgvs_p": "p.Arg487Cys",
"transcript": "ENST00000854023.1",
"protein_id": "ENSP00000524082.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 702,
"cds_start": 1459,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 2930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854023.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1432C>T",
"hgvs_p": "p.Arg478Cys",
"transcript": "ENST00000854030.1",
"protein_id": "ENSP00000524089.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 693,
"cds_start": 1432,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 2873,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854030.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1534C>T",
"hgvs_p": "p.Arg512Cys",
"transcript": "ENST00000934210.1",
"protein_id": "ENSP00000604269.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 692,
"cds_start": 1534,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 3016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934210.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1408C>T",
"hgvs_p": "p.Arg470Cys",
"transcript": "ENST00000854024.1",
"protein_id": "ENSP00000524083.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 685,
"cds_start": 1408,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854024.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1534C>T",
"hgvs_p": "p.Arg512Cys",
"transcript": "ENST00000960559.1",
"protein_id": "ENSP00000630618.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 685,
"cds_start": 1534,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960559.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1534C>T",
"hgvs_p": "p.Arg512Cys",
"transcript": "ENST00000854020.1",
"protein_id": "ENSP00000524079.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
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"biotype": "pseudogene",
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],
"gene_symbol": "PLOD1",
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"dbsnp": "rs138490756",
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"hom_count_reference_population": 29,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.013092964887619019,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.414,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1502,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.357,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
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"verdict": "Benign",
"transcript": "NM_001316320.2",
"gene_symbol": "PLOD1",
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"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.1675C>T",
"hgvs_p": "p.Arg559Cys"
}
],
"clinvar_disease": " kyphoscoliotic type 1,Ehlers-Danlos syndrome,Familial thoracic aortic aneurysm and aortic dissection,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:8 B:2",
"phenotype_combined": "Ehlers-Danlos syndrome, kyphoscoliotic type 1|not specified|not provided|Ehlers-Danlos syndrome|Familial thoracic aortic aneurysm and aortic dissection",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}