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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: 15-50707809-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=50707809&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 50707809,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001438111.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1554C>G",
"hgvs_p": "p.Val518Val",
"transcript": "NM_032802.4",
"protein_id": "NP_116191.2",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 520,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 7270,
"mane_select": "ENST00000261854.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032802.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1554C>G",
"hgvs_p": "p.Val518Val",
"transcript": "ENST00000261854.10",
"protein_id": "ENSP00000261854.5",
"transcript_support_level": 1,
"aa_start": 518,
"aa_end": null,
"aa_length": 520,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 7270,
"mane_select": "NM_032802.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261854.10"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1611C>G",
"hgvs_p": "p.Val537Val",
"transcript": "ENST00000951698.1",
"protein_id": "ENSP00000621757.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 539,
"cds_start": 1611,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951698.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1608C>G",
"hgvs_p": "p.Val536Val",
"transcript": "NM_001438111.1",
"protein_id": "NP_001425040.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 538,
"cds_start": 1608,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1781,
"cdna_end": null,
"cdna_length": 7324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438111.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1515C>G",
"hgvs_p": "p.Val505Val",
"transcript": "ENST00000951700.1",
"protein_id": "ENSP00000621759.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 507,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1629,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951700.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1497C>G",
"hgvs_p": "p.Val499Val",
"transcript": "ENST00000698132.1",
"protein_id": "ENSP00000513577.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 501,
"cds_start": 1497,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1672,
"cdna_end": null,
"cdna_length": 2714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698132.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1479C>G",
"hgvs_p": "p.Val493Val",
"transcript": "ENST00000698133.1",
"protein_id": "ENSP00000513579.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 495,
"cds_start": 1479,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1655,
"cdna_end": null,
"cdna_length": 2697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698133.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1443C>G",
"hgvs_p": "p.Val481Val",
"transcript": "ENST00000890970.1",
"protein_id": "ENSP00000561029.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 483,
"cds_start": 1443,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 1848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890970.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Val474Val",
"transcript": "ENST00000890968.1",
"protein_id": "ENSP00000561027.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 476,
"cds_start": 1422,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1595,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890968.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1266C>G",
"hgvs_p": "p.Val422Val",
"transcript": "ENST00000890969.1",
"protein_id": "ENSP00000561028.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 424,
"cds_start": 1266,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1465,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890969.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1059C>G",
"hgvs_p": "p.Val353Val",
"transcript": "ENST00000558934.1",
"protein_id": "ENSP00000453927.1",
"transcript_support_level": 5,
"aa_start": 353,
"aa_end": null,
"aa_length": 355,
"cds_start": 1059,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 1422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558934.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.642C>G",
"hgvs_p": "p.Val214Val",
"transcript": "ENST00000951699.1",
"protein_id": "ENSP00000621758.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 216,
"cds_start": 642,
"cds_end": null,
"cds_length": 651,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 1044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951699.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.*34C>G",
"hgvs_p": null,
"transcript": "NM_001438112.1",
"protein_id": "NP_001425041.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 452,
"cds_start": null,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438112.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.*34C>G",
"hgvs_p": null,
"transcript": "ENST00000698135.1",
"protein_id": "ENSP00000513581.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 452,
"cds_start": null,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698135.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.*34C>G",
"hgvs_p": null,
"transcript": "XM_017022680.2",
"protein_id": "XP_016878169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": null,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022680.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "n.*778C>G",
"hgvs_p": null,
"transcript": "ENST00000559293.2",
"protein_id": "ENSP00000513578.1",
"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": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000559293.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "n.5145C>G",
"hgvs_p": null,
"transcript": "ENST00000698130.1",
"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": 6187,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000698130.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "n.*635C>G",
"hgvs_p": null,
"transcript": "ENST00000698131.1",
"protein_id": "ENSP00000513576.1",
"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": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698131.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "n.*530C>G",
"hgvs_p": null,
"transcript": "ENST00000698134.1",
"protein_id": "ENSP00000513580.1",
"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": 2929,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698134.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "n.*778C>G",
"hgvs_p": null,
"transcript": "ENST00000559293.2",
"protein_id": "ENSP00000513578.1",
"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": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000559293.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "n.*635C>G",
"hgvs_p": null,
"transcript": "ENST00000698131.1",
"protein_id": "ENSP00000513576.1",
"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": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698131.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "n.*530C>G",
"hgvs_p": null,
"transcript": "ENST00000698134.1",
"protein_id": "ENSP00000513580.1",
"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": 2929,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698134.1"
}
],
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"dbsnp": "rs146593203",
"frequency_reference_population": 0.001973211,
"hom_count_reference_population": 3,
"allele_count_reference_population": 3035,
"gnomad_exomes_af": 0.00203699,
"gnomad_genomes_af": 0.00139259,
"gnomad_exomes_ac": 2823,
"gnomad_genomes_ac": 212,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"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": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.104,
"phylop100way_prediction": "Benign",
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001438111.1",
"gene_symbol": "SPPL2A",
"hgnc_id": 30227,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1608C>G",
"hgvs_p": "p.Val536Val"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}