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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: 2-214410302-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=214410302&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 214410302,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_024532.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1883G>A",
"hgvs_p": "p.Arg628Gln",
"transcript": "NM_024532.5",
"protein_id": "NP_078808.3",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 631,
"cds_start": 1883,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000331683.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024532.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1883G>A",
"hgvs_p": "p.Arg628Gln",
"transcript": "ENST00000331683.10",
"protein_id": "ENSP00000332592.5",
"transcript_support_level": 1,
"aa_start": 628,
"aa_end": null,
"aa_length": 631,
"cds_start": 1883,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024532.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331683.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "n.*1884G>A",
"hgvs_p": null,
"transcript": "ENST00000406979.6",
"protein_id": "ENSP00000385496.2",
"transcript_support_level": 1,
"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": "ENST00000406979.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "n.*1884G>A",
"hgvs_p": null,
"transcript": "ENST00000406979.6",
"protein_id": "ENSP00000385496.2",
"transcript_support_level": 1,
"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": "ENST00000406979.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Arg252Gln",
"transcript": "ENST00000451561.1",
"protein_id": "ENSP00000416600.1",
"transcript_support_level": 3,
"aa_start": 252,
"aa_end": null,
"aa_length": 255,
"cds_start": 755,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451561.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1790G>A",
"hgvs_p": "p.Arg597Gln",
"transcript": "XM_011511814.2",
"protein_id": "XP_011510116.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 600,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511814.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1721G>A",
"hgvs_p": "p.Arg574Gln",
"transcript": "XM_011511819.3",
"protein_id": "XP_011510121.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 577,
"cds_start": 1721,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511819.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1697G>A",
"hgvs_p": "p.Arg566Gln",
"transcript": "XM_011511820.3",
"protein_id": "XP_011510122.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 569,
"cds_start": 1697,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511820.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1574G>A",
"hgvs_p": "p.Arg525Gln",
"transcript": "XM_011511823.4",
"protein_id": "XP_011510125.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 528,
"cds_start": 1574,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511823.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509Gln",
"transcript": "XM_017004897.1",
"protein_id": "XP_016860386.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 512,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004897.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509Gln",
"transcript": "XM_047445817.1",
"protein_id": "XP_047301773.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 512,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047445817.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1160G>A",
"hgvs_p": "p.Arg387Gln",
"transcript": "XM_017004898.1",
"protein_id": "XP_016860387.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 390,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004898.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Arg322Gln",
"transcript": "XM_024453140.2",
"protein_id": "XP_024308908.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 325,
"cds_start": 965,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453140.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "n.2078G>A",
"hgvs_p": null,
"transcript": "NR_047659.2",
"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_047659.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "n.1784G>A",
"hgvs_p": null,
"transcript": "NR_047660.2",
"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_047660.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000197585",
"gene_hgnc_id": null,
"hgvs_c": "n.303+25890C>T",
"hgvs_p": null,
"transcript": "ENST00000412896.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000412896.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000197585",
"gene_hgnc_id": null,
"hgvs_c": "n.417+25890C>T",
"hgvs_p": null,
"transcript": "ENST00000437883.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000437883.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000197585",
"gene_hgnc_id": null,
"hgvs_c": "n.275+25890C>T",
"hgvs_p": null,
"transcript": "ENST00000661682.1",
"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": "pseudogene",
"feature": "ENST00000661682.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "n.*69G>A",
"hgvs_p": null,
"transcript": "ENST00000480494.1",
"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": "pseudogene",
"feature": "ENST00000480494.1"
}
],
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"dbsnp": "rs80016542",
"frequency_reference_population": 0.0082466705,
"hom_count_reference_population": 979,
"allele_count_reference_population": 13181,
"gnomad_exomes_af": 0.00444396,
"gnomad_genomes_af": 0.0444021,
"gnomad_exomes_ac": 6427,
"gnomad_genomes_ac": 6754,
"gnomad_exomes_homalt": 451,
"gnomad_genomes_homalt": 528,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0017105340957641602,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.154,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.056,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_024532.5",
"gene_symbol": "SPAG16",
"hgnc_id": 23225,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1883G>A",
"hgvs_p": "p.Arg628Gln"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000412896.5",
"gene_symbol": "ENSG00000197585",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.303+25890C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}