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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: 13-52417137-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=52417137&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 52417137,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016075.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"hgvs_c": "c.910C>G",
"hgvs_p": "p.Arg304Gly",
"transcript": "NM_016075.4",
"protein_id": "NP_057159.2",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 386,
"cds_start": 910,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378060.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016075.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"hgvs_c": "c.910C>G",
"hgvs_p": "p.Arg304Gly",
"transcript": "ENST00000378060.9",
"protein_id": "ENSP00000367299.3",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 386,
"cds_start": 910,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016075.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378060.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"hgvs_c": "c.736C>G",
"hgvs_p": "p.Arg246Gly",
"transcript": "ENST00000611132.4",
"protein_id": "ENSP00000484968.1",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 328,
"cds_start": 736,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611132.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"hgvs_c": "c.907C>G",
"hgvs_p": "p.Arg303Gly",
"transcript": "ENST00000888388.1",
"protein_id": "ENSP00000558447.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 385,
"cds_start": 907,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888388.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"hgvs_c": "c.883C>G",
"hgvs_p": "p.Arg295Gly",
"transcript": "NM_001282168.2",
"protein_id": "NP_001269097.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 377,
"cds_start": 883,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282168.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "ENST00000888391.1",
"protein_id": "ENSP00000558450.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 375,
"cds_start": 877,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888391.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"hgvs_c": "c.844C>G",
"hgvs_p": "p.Arg282Gly",
"transcript": "ENST00000888383.1",
"protein_id": "ENSP00000558442.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 364,
"cds_start": 844,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888383.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"hgvs_c": "c.832C>G",
"hgvs_p": "p.Arg278Gly",
"transcript": "ENST00000888384.1",
"protein_id": "ENSP00000558443.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 360,
"cds_start": 832,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888384.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"hgvs_c": "c.823C>G",
"hgvs_p": "p.Arg275Gly",
"transcript": "ENST00000888387.1",
"protein_id": "ENSP00000558446.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 357,
"cds_start": 823,
"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": "ENST00000888387.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"hgvs_c": "c.820C>G",
"hgvs_p": "p.Arg274Gly",
"transcript": "ENST00000888389.1",
"protein_id": "ENSP00000558448.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 356,
"cds_start": 820,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888389.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"hgvs_c": "c.817C>G",
"hgvs_p": "p.Arg273Gly",
"transcript": "ENST00000948194.1",
"protein_id": "ENSP00000618253.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 355,
"cds_start": 817,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948194.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"hgvs_c": "c.766C>G",
"hgvs_p": "p.Arg256Gly",
"transcript": "ENST00000888390.1",
"protein_id": "ENSP00000558449.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 338,
"cds_start": 766,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888390.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"hgvs_c": "c.754C>G",
"hgvs_p": "p.Arg252Gly",
"transcript": "ENST00000948196.1",
"protein_id": "ENSP00000618255.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 334,
"cds_start": 754,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948196.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"hgvs_c": "c.736C>G",
"hgvs_p": "p.Arg246Gly",
"transcript": "NM_001282169.2",
"protein_id": "NP_001269098.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 328,
"cds_start": 736,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282169.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"hgvs_c": "c.664C>G",
"hgvs_p": "p.Arg222Gly",
"transcript": "ENST00000948193.1",
"protein_id": "ENSP00000618252.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 304,
"cds_start": 664,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948193.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"hgvs_c": "c.622C>G",
"hgvs_p": "p.Arg208Gly",
"transcript": "ENST00000948197.1",
"protein_id": "ENSP00000618256.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 290,
"cds_start": 622,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948197.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"hgvs_c": "c.906-14C>G",
"hgvs_p": null,
"transcript": "ENST00000948195.1",
"protein_id": "ENSP00000618254.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": null,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948195.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"hgvs_c": "c.841-1044C>G",
"hgvs_p": null,
"transcript": "ENST00000888382.1",
"protein_id": "ENSP00000558441.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": null,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888382.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"hgvs_c": "c.775-1044C>G",
"hgvs_p": null,
"transcript": "ENST00000888385.1",
"protein_id": "ENSP00000558444.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 314,
"cds_start": null,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888385.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"hgvs_c": "c.763-1044C>G",
"hgvs_p": null,
"transcript": "ENST00000888386.1",
"protein_id": "ENSP00000558445.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 310,
"cds_start": null,
"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": "ENST00000888386.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"hgvs_c": "n.1000C>G",
"hgvs_p": null,
"transcript": "ENST00000649498.1",
"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": "retained_intron",
"feature": "ENST00000649498.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"hgvs_c": "n.*178C>G",
"hgvs_p": null,
"transcript": "ENST00000650274.1",
"protein_id": "ENSP00000497484.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000650274.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"hgvs_c": "n.*178C>G",
"hgvs_p": null,
"transcript": "ENST00000650274.1",
"protein_id": "ENSP00000497484.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000650274.1"
}
],
"gene_symbol": "VPS36",
"gene_hgnc_id": 20312,
"dbsnp": "rs778313209",
"frequency_reference_population": 6.841405e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84141e-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": 0.8679028749465942,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.357,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7994,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.723,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.07,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016075.4",
"gene_symbol": "VPS36",
"hgnc_id": 20312,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.910C>G",
"hgvs_p": "p.Arg304Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}