← 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: 10-127447420-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=127447420&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 127447420,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000623213.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.5440G>A",
"hgvs_p": "p.Ala1814Thr",
"transcript": "NM_001290223.2",
"protein_id": "NP_001277152.2",
"transcript_support_level": null,
"aa_start": 1814,
"aa_end": null,
"aa_length": 1886,
"cds_start": 5440,
"cds_end": null,
"cds_length": 5661,
"cdna_start": 5530,
"cdna_end": null,
"cdna_length": 6840,
"mane_select": "ENST00000623213.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.5440G>A",
"hgvs_p": "p.Ala1814Thr",
"transcript": "ENST00000623213.2",
"protein_id": "ENSP00000485033.1",
"transcript_support_level": 1,
"aa_start": 1814,
"aa_end": null,
"aa_length": 1886,
"cds_start": 5440,
"cds_end": null,
"cds_length": 5661,
"cdna_start": 5530,
"cdna_end": null,
"cdna_length": 6840,
"mane_select": "NM_001290223.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.5377G>A",
"hgvs_p": "p.Ala1793Thr",
"transcript": "ENST00000280333.9",
"protein_id": "ENSP00000280333.6",
"transcript_support_level": 1,
"aa_start": 1793,
"aa_end": null,
"aa_length": 1865,
"cds_start": 5377,
"cds_end": null,
"cds_length": 5598,
"cdna_start": 5486,
"cdna_end": null,
"cdna_length": 6797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.5539G>A",
"hgvs_p": "p.Ala1847Thr",
"transcript": "NM_001377543.1",
"protein_id": "NP_001364472.1",
"transcript_support_level": null,
"aa_start": 1847,
"aa_end": null,
"aa_length": 1919,
"cds_start": 5539,
"cds_end": null,
"cds_length": 5760,
"cdna_start": 5629,
"cdna_end": null,
"cdna_length": 6939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.5413G>A",
"hgvs_p": "p.Ala1805Thr",
"transcript": "NM_001377544.1",
"protein_id": "NP_001364473.1",
"transcript_support_level": null,
"aa_start": 1805,
"aa_end": null,
"aa_length": 1877,
"cds_start": 5413,
"cds_end": null,
"cds_length": 5634,
"cdna_start": 5503,
"cdna_end": null,
"cdna_length": 6813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.5377G>A",
"hgvs_p": "p.Ala1793Thr",
"transcript": "NM_001380.5",
"protein_id": "NP_001371.2",
"transcript_support_level": null,
"aa_start": 1793,
"aa_end": null,
"aa_length": 1865,
"cds_start": 5377,
"cds_end": null,
"cds_length": 5598,
"cdna_start": 5467,
"cdna_end": null,
"cdna_length": 6777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.5320G>A",
"hgvs_p": "p.Ala1774Thr",
"transcript": "NM_001377546.1",
"protein_id": "NP_001364475.1",
"transcript_support_level": null,
"aa_start": 1774,
"aa_end": null,
"aa_length": 1846,
"cds_start": 5320,
"cds_end": null,
"cds_length": 5541,
"cdna_start": 5410,
"cdna_end": null,
"cdna_length": 6720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.5314G>A",
"hgvs_p": "p.Ala1772Thr",
"transcript": "NM_001377547.1",
"protein_id": "NP_001364476.1",
"transcript_support_level": null,
"aa_start": 1772,
"aa_end": null,
"aa_length": 1844,
"cds_start": 5314,
"cds_end": null,
"cds_length": 5535,
"cdna_start": 5404,
"cdna_end": null,
"cdna_length": 6714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.5293G>A",
"hgvs_p": "p.Ala1765Thr",
"transcript": "NM_001377548.1",
"protein_id": "NP_001364477.1",
"transcript_support_level": null,
"aa_start": 1765,
"aa_end": null,
"aa_length": 1837,
"cds_start": 5293,
"cds_end": null,
"cds_length": 5514,
"cdna_start": 5383,
"cdna_end": null,
"cdna_length": 6693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.5278G>A",
"hgvs_p": "p.Ala1760Thr",
"transcript": "NM_001377550.1",
"protein_id": "NP_001364479.1",
"transcript_support_level": null,
"aa_start": 1760,
"aa_end": null,
"aa_length": 1832,
"cds_start": 5278,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 5368,
"cdna_end": null,
"cdna_length": 6678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.5257G>A",
"hgvs_p": "p.Ala1753Thr",
"transcript": "NM_001377553.1",
"protein_id": "NP_001364482.1",
"transcript_support_level": null,
"aa_start": 1753,
"aa_end": null,
"aa_length": 1825,
"cds_start": 5257,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 5347,
"cdna_end": null,
"cdna_length": 6657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.5224G>A",
"hgvs_p": "p.Ala1742Thr",
"transcript": "NM_001377554.1",
"protein_id": "NP_001364483.1",
"transcript_support_level": null,
"aa_start": 1742,
"aa_end": null,
"aa_length": 1814,
"cds_start": 5224,
"cds_end": null,
"cds_length": 5445,
"cdna_start": 5314,
"cdna_end": null,
"cdna_length": 6624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.5182G>A",
"hgvs_p": "p.Ala1728Thr",
"transcript": "NM_001377556.1",
"protein_id": "NP_001364485.1",
"transcript_support_level": null,
"aa_start": 1728,
"aa_end": null,
"aa_length": 1800,
"cds_start": 5182,
"cds_end": null,
"cds_length": 5403,
"cdna_start": 5272,
"cdna_end": null,
"cdna_length": 6582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.5170G>A",
"hgvs_p": "p.Ala1724Thr",
"transcript": "NM_001377558.1",
"protein_id": "NP_001364487.1",
"transcript_support_level": null,
"aa_start": 1724,
"aa_end": null,
"aa_length": 1796,
"cds_start": 5170,
"cds_end": null,
"cds_length": 5391,
"cdna_start": 5260,
"cdna_end": null,
"cdna_length": 6570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.4585G>A",
"hgvs_p": "p.Ala1529Thr",
"transcript": "NM_001377560.1",
"protein_id": "NP_001364489.1",
"transcript_support_level": null,
"aa_start": 1529,
"aa_end": null,
"aa_length": 1601,
"cds_start": 4585,
"cds_end": null,
"cds_length": 4806,
"cdna_start": 4675,
"cdna_end": null,
"cdna_length": 5985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.5506G>A",
"hgvs_p": "p.Ala1836Thr",
"transcript": "XM_011539422.4",
"protein_id": "XP_011537724.1",
"transcript_support_level": null,
"aa_start": 1836,
"aa_end": null,
"aa_length": 1908,
"cds_start": 5506,
"cds_end": null,
"cds_length": 5727,
"cdna_start": 5535,
"cdna_end": null,
"cdna_length": 6845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.5443G>A",
"hgvs_p": "p.Ala1815Thr",
"transcript": "XM_017015813.3",
"protein_id": "XP_016871302.1",
"transcript_support_level": null,
"aa_start": 1815,
"aa_end": null,
"aa_length": 1887,
"cds_start": 5443,
"cds_end": null,
"cds_length": 5664,
"cdna_start": 5889,
"cdna_end": null,
"cdna_length": 7199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"hgvs_c": "c.5422G>A",
"hgvs_p": "p.Ala1808Thr",
"transcript": "XM_011539424.2",
"protein_id": "XP_011537726.1",
"transcript_support_level": null,
"aa_start": 1808,
"aa_end": null,
"aa_length": 1880,
"cds_start": 5422,
"cds_end": null,
"cds_length": 5643,
"cdna_start": 5437,
"cdna_end": null,
"cdna_length": 6747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DOCK1",
"gene_hgnc_id": 2987,
"dbsnp": "rs869801",
"frequency_reference_population": 0.25365797,
"hom_count_reference_population": 53328,
"allele_count_reference_population": 408922,
"gnomad_exomes_af": 0.254835,
"gnomad_genomes_af": 0.242361,
"gnomad_exomes_ac": 372054,
"gnomad_genomes_ac": 36868,
"gnomad_exomes_homalt": 48671,
"gnomad_genomes_homalt": 4657,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0039144158363342285,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.078,
"revel_prediction": "Benign",
"alphamissense_score": 0.0593,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.848,
"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": "ENST00000623213.2",
"gene_symbol": "DOCK1",
"hgnc_id": 2987,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5440G>A",
"hgvs_p": "p.Ala1814Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}