← Back to variant description
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: 2-213862497-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=213862497&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 213862497,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000331683.10",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1083A>C",
"hgvs_p": "p.Gln361His",
"transcript": "NM_024532.5",
"protein_id": "NP_078808.3",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 631,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": "ENST00000331683.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1083A>C",
"hgvs_p": "p.Gln361His",
"transcript": "ENST00000331683.10",
"protein_id": "ENSP00000332592.5",
"transcript_support_level": 1,
"aa_start": 361,
"aa_end": null,
"aa_length": 631,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": "NM_024532.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "n.*1084A>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "n.*1084A>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.141A>C",
"hgvs_p": "p.Gln47His",
"transcript": "ENST00000451561.1",
"protein_id": "ENSP00000416600.1",
"transcript_support_level": 3,
"aa_start": 47,
"aa_end": null,
"aa_length": 255,
"cds_start": 141,
"cds_end": null,
"cds_length": 768,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.990A>C",
"hgvs_p": "p.Gln330His",
"transcript": "XM_011511814.2",
"protein_id": "XP_011510116.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 600,
"cds_start": 990,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 2187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1083A>C",
"hgvs_p": "p.Gln361His",
"transcript": "XM_011511815.3",
"protein_id": "XP_011510117.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 592,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1083A>C",
"hgvs_p": "p.Gln361His",
"transcript": "XM_011511816.4",
"protein_id": "XP_011510118.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 592,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 1903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1083A>C",
"hgvs_p": "p.Gln361His",
"transcript": "XM_011511817.3",
"protein_id": "XP_011510119.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 582,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1083A>C",
"hgvs_p": "p.Gln361His",
"transcript": "XM_011511818.3",
"protein_id": "XP_011510120.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 577,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.921A>C",
"hgvs_p": "p.Gln307His",
"transcript": "XM_011511819.3",
"protein_id": "XP_011510121.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 577,
"cds_start": 921,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1083A>C",
"hgvs_p": "p.Gln361His",
"transcript": "XM_011511820.3",
"protein_id": "XP_011510122.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 569,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.774A>C",
"hgvs_p": "p.Gln258His",
"transcript": "XM_011511823.4",
"protein_id": "XP_011510125.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 528,
"cds_start": 774,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1791,
"cdna_end": null,
"cdna_length": 2790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.1083A>C",
"hgvs_p": "p.Gln361His",
"transcript": "XM_011511824.3",
"protein_id": "XP_011510126.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 520,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.726A>C",
"hgvs_p": "p.Gln242His",
"transcript": "XM_017004897.1",
"protein_id": "XP_016860386.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 512,
"cds_start": 726,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 3885,
"cdna_end": null,
"cdna_length": 4884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.726A>C",
"hgvs_p": "p.Gln242His",
"transcript": "XM_047445817.1",
"protein_id": "XP_047301773.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 512,
"cds_start": 726,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.360A>C",
"hgvs_p": "p.Gln120His",
"transcript": "XM_017004898.1",
"protein_id": "XP_016860387.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 390,
"cds_start": 360,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 1616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "c.165A>C",
"hgvs_p": "p.Gln55His",
"transcript": "XM_024453140.2",
"protein_id": "XP_024308908.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 325,
"cds_start": 165,
"cds_end": null,
"cds_length": 978,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 1249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "n.*649A>C",
"hgvs_p": null,
"transcript": "ENST00000452556.5",
"protein_id": "ENSP00000398926.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "n.1278A>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "n.984A>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"hgvs_c": "n.*649A>C",
"hgvs_p": null,
"transcript": "ENST00000452556.5",
"protein_id": "ENSP00000398926.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPAG16",
"gene_hgnc_id": 23225,
"dbsnp": "rs2042791",
"frequency_reference_population": 0.3783649,
"hom_count_reference_population": 117934,
"allele_count_reference_population": 610466,
"gnomad_exomes_af": 0.38202,
"gnomad_genomes_af": 0.343214,
"gnomad_exomes_ac": 558305,
"gnomad_genomes_ac": 52161,
"gnomad_exomes_homalt": 108493,
"gnomad_genomes_homalt": 9441,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0008425712585449219,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.089,
"revel_prediction": "Benign",
"alphamissense_score": 0.0502,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.665,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "ENST00000331683.10",
"gene_symbol": "SPAG16",
"hgnc_id": 23225,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1083A>C",
"hgvs_p": "p.Gln361His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}