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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: 17-76386864-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=76386864&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SPHK1",
"hgnc_id": 11240,
"hgvs_c": "c.691C>T",
"hgvs_p": "p.Arg231Trp",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_182965.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.1477,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.48750051856040955,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 384,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1816,
"cdna_start": 825,
"cds_end": null,
"cds_length": 1155,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001142601.2",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000592299.6",
"protein_coding": true,
"protein_id": "NP_001136073.1",
"strand": true,
"transcript": "NM_001142601.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 384,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1816,
"cdna_start": 825,
"cds_end": null,
"cds_length": 1155,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000592299.6",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001142601.2",
"protein_coding": true,
"protein_id": "ENSP00000465726.2",
"strand": true,
"transcript": "ENST00000592299.6",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 470,
"aa_ref": "R",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2138,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 1413,
"cds_start": 691,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000323374.8",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.691C>T",
"hgvs_p": "p.Arg231Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000313681.3",
"strand": true,
"transcript": "ENST00000323374.8",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 398,
"aa_ref": "R",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1851,
"cdna_start": 855,
"cds_end": null,
"cds_length": 1197,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000590959.5",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Arg159Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468547.1",
"strand": true,
"transcript": "ENST00000590959.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 384,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1779,
"cdna_start": 786,
"cds_end": null,
"cds_length": 1155,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000392496.3",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376285.2",
"strand": true,
"transcript": "ENST00000392496.3",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 470,
"aa_ref": "R",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2179,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 1413,
"cds_start": 691,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_182965.3",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.691C>T",
"hgvs_p": "p.Arg231Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_892010.2",
"strand": true,
"transcript": "NM_182965.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 398,
"aa_ref": "R",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1858,
"cdna_start": 867,
"cds_end": null,
"cds_length": 1197,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_021972.4",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Arg159Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_068807.2",
"strand": true,
"transcript": "NM_021972.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 398,
"aa_ref": "R",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2191,
"cdna_start": 1201,
"cds_end": null,
"cds_length": 1197,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000960428.1",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Arg159Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630487.1",
"strand": true,
"transcript": "ENST00000960428.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 384,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1791,
"cdna_start": 800,
"cds_end": null,
"cds_length": 1155,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001142602.2",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001136074.1",
"strand": true,
"transcript": "NM_001142602.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 384,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1944,
"cdna_start": 953,
"cds_end": null,
"cds_length": 1155,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001355139.2",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001342068.1",
"strand": true,
"transcript": "NM_001355139.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 384,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2238,
"cdna_start": 1242,
"cds_end": null,
"cds_length": 1155,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000545180.5",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440970.1",
"strand": true,
"transcript": "ENST00000545180.5",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 384,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": 786,
"cds_end": null,
"cds_length": 1155,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000889756.1",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559815.1",
"strand": true,
"transcript": "ENST00000889756.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 384,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1752,
"cdna_start": 761,
"cds_end": null,
"cds_length": 1155,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000889758.1",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559817.1",
"strand": true,
"transcript": "ENST00000889758.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 384,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1989,
"cdna_start": 994,
"cds_end": null,
"cds_length": 1155,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000889759.1",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559818.1",
"strand": true,
"transcript": "ENST00000889759.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 384,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1710,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1155,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000889760.1",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559819.1",
"strand": true,
"transcript": "ENST00000889760.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 384,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1744,
"cdna_start": 753,
"cds_end": null,
"cds_length": 1155,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000889761.1",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559820.1",
"strand": true,
"transcript": "ENST00000889761.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 384,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1765,
"cdna_start": 775,
"cds_end": null,
"cds_length": 1155,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000960427.1",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630486.1",
"strand": true,
"transcript": "ENST00000960427.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1689,
"cdna_start": 698,
"cds_end": null,
"cds_length": 1134,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000889757.1",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Arg138Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559816.1",
"strand": true,
"transcript": "ENST00000889757.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 377,
"aa_ref": "R",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1732,
"cdna_start": 742,
"cds_end": null,
"cds_length": 1134,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000960429.1",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Arg138Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630488.1",
"strand": true,
"transcript": "ENST00000960429.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 333,
"aa_ref": "R",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1632,
"cdna_start": 641,
"cds_end": null,
"cds_length": 1002,
"cds_start": 280,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000889762.1",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.280C>T",
"hgvs_p": "p.Arg94Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559821.1",
"strand": true,
"transcript": "ENST00000889762.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 151,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 858,
"cdna_start": 835,
"cds_end": null,
"cds_length": 456,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000588682.5",
"gene_hgnc_id": 11240,
"gene_symbol": "SPHK1",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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},
{
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],
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}
],
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"effect": "missense_variant",
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"gnomad_mito_homoplasmic": null,
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"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
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}
]
}