← 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: 12-123909293-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=123909293&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 123909293,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001372106.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.9848C>A",
"hgvs_p": "p.Thr3283Lys",
"transcript": "NM_001372106.1",
"protein_id": "NP_001359035.1",
"transcript_support_level": null,
"aa_start": 3283,
"aa_end": null,
"aa_length": 4589,
"cds_start": 9848,
"cds_end": null,
"cds_length": 13770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000673944.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372106.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.9848C>A",
"hgvs_p": "p.Thr3283Lys",
"transcript": "ENST00000673944.1",
"protein_id": "ENSP00000501095.1",
"transcript_support_level": null,
"aa_start": 3283,
"aa_end": null,
"aa_length": 4589,
"cds_start": 9848,
"cds_end": null,
"cds_length": 13770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001372106.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673944.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.9677C>A",
"hgvs_p": "p.Thr3226Lys",
"transcript": "ENST00000409039.8",
"protein_id": "ENSP00000386770.4",
"transcript_support_level": 5,
"aa_start": 3226,
"aa_end": null,
"aa_length": 4532,
"cds_start": 9677,
"cds_end": null,
"cds_length": 13599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409039.8"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.9494C>A",
"hgvs_p": "p.Thr3165Lys",
"transcript": "NM_207437.3",
"protein_id": "NP_997320.2",
"transcript_support_level": null,
"aa_start": 3165,
"aa_end": null,
"aa_length": 4471,
"cds_start": 9494,
"cds_end": null,
"cds_length": 13416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207437.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.9494C>A",
"hgvs_p": "p.Thr3165Lys",
"transcript": "ENST00000638045.1",
"protein_id": "ENSP00000489675.1",
"transcript_support_level": 5,
"aa_start": 3165,
"aa_end": null,
"aa_length": 4471,
"cds_start": 9494,
"cds_end": null,
"cds_length": 13416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638045.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.233C>A",
"hgvs_p": "p.Thr78Lys",
"transcript": "ENST00000540041.2",
"protein_id": "ENSP00000445308.2",
"transcript_support_level": 5,
"aa_start": 78,
"aa_end": null,
"aa_length": 318,
"cds_start": 233,
"cds_end": null,
"cds_length": 959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540041.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.9689C>A",
"hgvs_p": "p.Thr3230Lys",
"transcript": "XM_011538014.3",
"protein_id": "XP_011536316.1",
"transcript_support_level": null,
"aa_start": 3230,
"aa_end": null,
"aa_length": 4536,
"cds_start": 9689,
"cds_end": null,
"cds_length": 13611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538014.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.9659C>A",
"hgvs_p": "p.Thr3220Lys",
"transcript": "XM_011538015.4",
"protein_id": "XP_011536317.1",
"transcript_support_level": null,
"aa_start": 3220,
"aa_end": null,
"aa_length": 4526,
"cds_start": 9659,
"cds_end": null,
"cds_length": 13581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538015.4"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.9659C>A",
"hgvs_p": "p.Thr3220Lys",
"transcript": "XM_011538016.3",
"protein_id": "XP_011536318.1",
"transcript_support_level": null,
"aa_start": 3220,
"aa_end": null,
"aa_length": 4526,
"cds_start": 9659,
"cds_end": null,
"cds_length": 13581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538016.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.9563C>A",
"hgvs_p": "p.Thr3188Lys",
"transcript": "XM_017018960.2",
"protein_id": "XP_016874449.1",
"transcript_support_level": null,
"aa_start": 3188,
"aa_end": null,
"aa_length": 4494,
"cds_start": 9563,
"cds_end": null,
"cds_length": 13485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018960.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.9539C>A",
"hgvs_p": "p.Thr3180Lys",
"transcript": "XM_017018961.2",
"protein_id": "XP_016874450.1",
"transcript_support_level": null,
"aa_start": 3180,
"aa_end": null,
"aa_length": 4486,
"cds_start": 9539,
"cds_end": null,
"cds_length": 13461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018961.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.9512C>A",
"hgvs_p": "p.Thr3171Lys",
"transcript": "XM_011538017.4",
"protein_id": "XP_011536319.1",
"transcript_support_level": null,
"aa_start": 3171,
"aa_end": null,
"aa_length": 4477,
"cds_start": 9512,
"cds_end": null,
"cds_length": 13434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538017.4"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.6689C>A",
"hgvs_p": "p.Thr2230Lys",
"transcript": "XM_011538019.3",
"protein_id": "XP_011536321.1",
"transcript_support_level": null,
"aa_start": 2230,
"aa_end": null,
"aa_length": 3536,
"cds_start": 6689,
"cds_end": null,
"cds_length": 10611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538019.3"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.6608C>A",
"hgvs_p": "p.Thr2203Lys",
"transcript": "XM_017018962.2",
"protein_id": "XP_016874451.1",
"transcript_support_level": null,
"aa_start": 2203,
"aa_end": null,
"aa_length": 3509,
"cds_start": 6608,
"cds_end": null,
"cds_length": 10530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018962.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.3398C>A",
"hgvs_p": "p.Thr1133Lys",
"transcript": "XM_047428478.1",
"protein_id": "XP_047284434.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 2439,
"cds_start": 3398,
"cds_end": null,
"cds_length": 7320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428478.1"
}
],
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"dbsnp": "rs191384577",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30885618925094604,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.261,
"revel_prediction": "Benign",
"alphamissense_score": 0.3703,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.127,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001372106.1",
"gene_symbol": "DNAH10",
"hgnc_id": 2941,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.9848C>A",
"hgvs_p": "p.Thr3283Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}