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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: 2-175939613-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=175939613&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 175939613,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001305008.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.751C>A",
"hgvs_p": "p.Arg251Arg",
"transcript": "NM_030650.3",
"protein_id": "NP_085153.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 428,
"cds_start": 751,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000272748.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030650.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.751C>A",
"hgvs_p": "p.Arg251Arg",
"transcript": "ENST00000272748.9",
"protein_id": "ENSP00000272748.4",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 428,
"cds_start": 751,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030650.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272748.9"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.844C>A",
"hgvs_p": "p.Arg282Arg",
"transcript": "ENST00000544803.5",
"protein_id": "ENSP00000440905.1",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 459,
"cds_start": 844,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544803.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "ENST00000409660.5",
"protein_id": "ENSP00000386237.1",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 305,
"cds_start": 382,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409660.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Arg",
"transcript": "NM_001305008.1",
"protein_id": "NP_001291937.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 494,
"cds_start": 949,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305008.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.868C>A",
"hgvs_p": "p.Arg290Arg",
"transcript": "ENST00000878295.1",
"protein_id": "ENSP00000548354.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 467,
"cds_start": 868,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878295.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.850C>A",
"hgvs_p": "p.Arg284Arg",
"transcript": "ENST00000918228.1",
"protein_id": "ENSP00000588287.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 461,
"cds_start": 850,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918228.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.844C>A",
"hgvs_p": "p.Arg282Arg",
"transcript": "NM_001305009.1",
"protein_id": "NP_001291938.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 459,
"cds_start": 844,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305009.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.757C>A",
"hgvs_p": "p.Arg253Arg",
"transcript": "NM_001305010.1",
"protein_id": "NP_001291939.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 430,
"cds_start": 757,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305010.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.751C>A",
"hgvs_p": "p.Arg251Arg",
"transcript": "ENST00000878296.1",
"protein_id": "ENSP00000548355.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 428,
"cds_start": 751,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878296.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.736C>A",
"hgvs_p": "p.Arg246Arg",
"transcript": "ENST00000878294.1",
"protein_id": "ENSP00000548353.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 423,
"cds_start": 736,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878294.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.703C>A",
"hgvs_p": "p.Arg235Arg",
"transcript": "ENST00000948632.1",
"protein_id": "ENSP00000618691.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 412,
"cds_start": 703,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948632.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.688C>A",
"hgvs_p": "p.Arg230Arg",
"transcript": "ENST00000948634.1",
"protein_id": "ENSP00000618693.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 407,
"cds_start": 688,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948634.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.538C>A",
"hgvs_p": "p.Arg180Arg",
"transcript": "ENST00000948633.1",
"protein_id": "ENSP00000618692.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 357,
"cds_start": 538,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948633.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Arg",
"transcript": "NM_001305011.2",
"protein_id": "NP_001291940.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 305,
"cds_start": 382,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305011.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.751C>A",
"hgvs_p": "p.Arg251Arg",
"transcript": "XM_006712783.3",
"protein_id": "XP_006712846.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 428,
"cds_start": 751,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712783.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.751C>A",
"hgvs_p": "p.Arg251Arg",
"transcript": "XM_005246878.5",
"protein_id": "XP_005246935.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 381,
"cds_start": 751,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246878.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Arg176Arg",
"transcript": "XM_005246879.5",
"protein_id": "XP_005246936.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 353,
"cds_start": 526,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246879.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Arg176Arg",
"transcript": "XM_047445937.1",
"protein_id": "XP_047301893.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 353,
"cds_start": 526,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445937.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "c.397C>A",
"hgvs_p": "p.Arg133Arg",
"transcript": "XM_005246880.4",
"protein_id": "XP_005246937.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 310,
"cds_start": 397,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246880.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "n.76C>A",
"hgvs_p": null,
"transcript": "ENST00000431754.1",
"protein_id": "ENSP00000388507.1",
"transcript_support_level": 5,
"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": "ENST00000431754.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "n.142C>A",
"hgvs_p": null,
"transcript": "ENST00000480788.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000480788.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"hgvs_c": "n.1269C>A",
"hgvs_p": null,
"transcript": "NR_130941.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_130941.2"
}
],
"gene_symbol": "LNPK",
"gene_hgnc_id": 21610,
"dbsnp": "rs1391644554",
"frequency_reference_population": 6.871001e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.871e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3400000035762787,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.05,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"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": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001305008.1",
"gene_symbol": "LNPK",
"hgnc_id": 21610,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}