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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: 17-76386899-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=76386899&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 76386899,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_182965.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPHK1",
"gene_hgnc_id": 11240,
"hgvs_c": "c.468C>T",
"hgvs_p": "p.His156His",
"transcript": "NM_001142601.2",
"protein_id": "NP_001136073.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 384,
"cds_start": 468,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000592299.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142601.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPHK1",
"gene_hgnc_id": 11240,
"hgvs_c": "c.468C>T",
"hgvs_p": "p.His156His",
"transcript": "ENST00000592299.6",
"protein_id": "ENSP00000465726.2",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 384,
"cds_start": 468,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001142601.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592299.6"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPHK1",
"gene_hgnc_id": 11240,
"hgvs_c": "c.726C>T",
"hgvs_p": "p.His242His",
"transcript": "ENST00000323374.8",
"protein_id": "ENSP00000313681.3",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 470,
"cds_start": 726,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323374.8"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPHK1",
"gene_hgnc_id": 11240,
"hgvs_c": "c.510C>T",
"hgvs_p": "p.His170His",
"transcript": "ENST00000590959.5",
"protein_id": "ENSP00000468547.1",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 398,
"cds_start": 510,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590959.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPHK1",
"gene_hgnc_id": 11240,
"hgvs_c": "c.468C>T",
"hgvs_p": "p.His156His",
"transcript": "ENST00000392496.3",
"protein_id": "ENSP00000376285.2",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 384,
"cds_start": 468,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392496.3"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPHK1",
"gene_hgnc_id": 11240,
"hgvs_c": "c.726C>T",
"hgvs_p": "p.His242His",
"transcript": "NM_182965.3",
"protein_id": "NP_892010.2",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 470,
"cds_start": 726,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182965.3"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPHK1",
"gene_hgnc_id": 11240,
"hgvs_c": "c.510C>T",
"hgvs_p": "p.His170His",
"transcript": "NM_021972.4",
"protein_id": "NP_068807.2",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 398,
"cds_start": 510,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021972.4"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPHK1",
"gene_hgnc_id": 11240,
"hgvs_c": "c.510C>T",
"hgvs_p": "p.His170His",
"transcript": "ENST00000960428.1",
"protein_id": "ENSP00000630487.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 398,
"cds_start": 510,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960428.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPHK1",
"gene_hgnc_id": 11240,
"hgvs_c": "c.468C>T",
"hgvs_p": "p.His156His",
"transcript": "NM_001142602.2",
"protein_id": "NP_001136074.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 384,
"cds_start": 468,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142602.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPHK1",
"gene_hgnc_id": 11240,
"hgvs_c": "c.468C>T",
"hgvs_p": "p.His156His",
"transcript": "NM_001355139.2",
"protein_id": "NP_001342068.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 384,
"cds_start": 468,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355139.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPHK1",
"gene_hgnc_id": 11240,
"hgvs_c": "c.468C>T",
"hgvs_p": "p.His156His",
"transcript": "ENST00000545180.5",
"protein_id": "ENSP00000440970.1",
"transcript_support_level": 2,
"aa_start": 156,
"aa_end": null,
"aa_length": 384,
"cds_start": 468,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545180.5"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPHK1",
"gene_hgnc_id": 11240,
"hgvs_c": "c.468C>T",
"hgvs_p": "p.His156His",
"transcript": "ENST00000889756.1",
"protein_id": "ENSP00000559815.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 384,
"cds_start": 468,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889756.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPHK1",
"gene_hgnc_id": 11240,
"hgvs_c": "c.468C>T",
"hgvs_p": "p.His156His",
"transcript": "ENST00000889758.1",
"protein_id": "ENSP00000559817.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 384,
"cds_start": 468,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889758.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPHK1",
"gene_hgnc_id": 11240,
"hgvs_c": "c.468C>T",
"hgvs_p": "p.His156His",
"transcript": "ENST00000889759.1",
"protein_id": "ENSP00000559818.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 384,
"cds_start": 468,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889759.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPHK1",
"gene_hgnc_id": 11240,
"hgvs_c": "c.468C>T",
"hgvs_p": "p.His156His",
"transcript": "ENST00000889760.1",
"protein_id": "ENSP00000559819.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 384,
"cds_start": 468,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889760.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPHK1",
"gene_hgnc_id": 11240,
"hgvs_c": "c.468C>T",
"hgvs_p": "p.His156His",
"transcript": "ENST00000889761.1",
"protein_id": "ENSP00000559820.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 384,
"cds_start": 468,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889761.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPHK1",
"gene_hgnc_id": 11240,
"hgvs_c": "c.468C>T",
"hgvs_p": "p.His156His",
"transcript": "ENST00000960427.1",
"protein_id": "ENSP00000630486.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 384,
"cds_start": 468,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960427.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPHK1",
"gene_hgnc_id": 11240,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.His149His",
"transcript": "ENST00000889757.1",
"protein_id": "ENSP00000559816.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 377,
"cds_start": 447,
"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": "ENST00000889757.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPHK1",
"gene_hgnc_id": 11240,
"hgvs_c": "c.447C>T",
"hgvs_p": "p.His149His",
"transcript": "ENST00000960429.1",
"protein_id": "ENSP00000630488.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 377,
"cds_start": 447,
"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": "ENST00000960429.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPHK1",
"gene_hgnc_id": 11240,
"hgvs_c": "c.315C>T",
"hgvs_p": "p.His105His",
"transcript": "ENST00000889762.1",
"protein_id": "ENSP00000559821.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 333,
"cds_start": 315,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889762.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPHK1",
"gene_hgnc_id": 11240,
"hgvs_c": "n.1545C>T",
"hgvs_p": null,
"transcript": "ENST00000591762.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000591762.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPHK1",
"gene_hgnc_id": 11240,
"hgvs_c": "c.*12C>T",
"hgvs_p": null,
"transcript": "ENST00000588682.5",
"protein_id": "ENSP00000466422.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": null,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588682.5"
}
],
"gene_symbol": "SPHK1",
"gene_hgnc_id": 11240,
"dbsnp": "rs9901836",
"frequency_reference_population": 0.00039702677,
"hom_count_reference_population": 2,
"allele_count_reference_population": 640,
"gnomad_exomes_af": 0.000217865,
"gnomad_genomes_af": 0.00211339,
"gnomad_exomes_ac": 318,
"gnomad_genomes_ac": 322,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6499999761581421,
"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": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.019,
"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_182965.3",
"gene_symbol": "SPHK1",
"hgnc_id": 11240,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.726C>T",
"hgvs_p": "p.His242His"
}
],
"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
}