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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: 17-7778094-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7778094&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7778094,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_020877.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH2",
"gene_hgnc_id": 2948,
"hgvs_c": "c.5265C>G",
"hgvs_p": "p.Val1755Val",
"transcript": "NM_020877.5",
"protein_id": "NP_065928.2",
"transcript_support_level": null,
"aa_start": 1755,
"aa_end": null,
"aa_length": 4427,
"cds_start": 5265,
"cds_end": null,
"cds_length": 13284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000572933.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020877.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH2",
"gene_hgnc_id": 2948,
"hgvs_c": "c.5265C>G",
"hgvs_p": "p.Val1755Val",
"transcript": "ENST00000572933.6",
"protein_id": "ENSP00000458355.1",
"transcript_support_level": 2,
"aa_start": 1755,
"aa_end": null,
"aa_length": 4427,
"cds_start": 5265,
"cds_end": null,
"cds_length": 13284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020877.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572933.6"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH2",
"gene_hgnc_id": 2948,
"hgvs_c": "c.5265C>G",
"hgvs_p": "p.Val1755Val",
"transcript": "ENST00000389173.6",
"protein_id": "ENSP00000373825.2",
"transcript_support_level": 2,
"aa_start": 1755,
"aa_end": null,
"aa_length": 4427,
"cds_start": 5265,
"cds_end": null,
"cds_length": 13284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389173.6"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH2",
"gene_hgnc_id": 2948,
"hgvs_c": "c.5511C>G",
"hgvs_p": "p.Val1837Val",
"transcript": "XM_011523663.2",
"protein_id": "XP_011521965.1",
"transcript_support_level": null,
"aa_start": 1837,
"aa_end": null,
"aa_length": 4509,
"cds_start": 5511,
"cds_end": null,
"cds_length": 13530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523663.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH2",
"gene_hgnc_id": 2948,
"hgvs_c": "c.5511C>G",
"hgvs_p": "p.Val1837Val",
"transcript": "XM_047435424.1",
"protein_id": "XP_047291380.1",
"transcript_support_level": null,
"aa_start": 1837,
"aa_end": null,
"aa_length": 4509,
"cds_start": 5511,
"cds_end": null,
"cds_length": 13530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435424.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH2",
"gene_hgnc_id": 2948,
"hgvs_c": "c.5511C>G",
"hgvs_p": "p.Val1837Val",
"transcript": "XM_047435425.1",
"protein_id": "XP_047291381.1",
"transcript_support_level": null,
"aa_start": 1837,
"aa_end": null,
"aa_length": 4446,
"cds_start": 5511,
"cds_end": null,
"cds_length": 13341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435425.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH2",
"gene_hgnc_id": 2948,
"hgvs_c": "c.5265C>G",
"hgvs_p": "p.Val1755Val",
"transcript": "XM_011523667.3",
"protein_id": "XP_011521969.1",
"transcript_support_level": null,
"aa_start": 1755,
"aa_end": null,
"aa_length": 4427,
"cds_start": 5265,
"cds_end": null,
"cds_length": 13284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523667.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH2",
"gene_hgnc_id": 2948,
"hgvs_c": "c.3903C>G",
"hgvs_p": "p.Val1301Val",
"transcript": "XM_047435426.1",
"protein_id": "XP_047291382.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 3973,
"cds_start": 3903,
"cds_end": null,
"cds_length": 11922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435426.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH2",
"gene_hgnc_id": 2948,
"hgvs_c": "c.3516C>G",
"hgvs_p": "p.Val1172Val",
"transcript": "XM_047435427.1",
"protein_id": "XP_047291383.1",
"transcript_support_level": null,
"aa_start": 1172,
"aa_end": null,
"aa_length": 3844,
"cds_start": 3516,
"cds_end": null,
"cds_length": 11535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435427.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 76,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH2",
"gene_hgnc_id": 2948,
"hgvs_c": "c.3507C>G",
"hgvs_p": "p.Val1169Val",
"transcript": "XM_047435428.1",
"protein_id": "XP_047291384.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 3841,
"cds_start": 3507,
"cds_end": null,
"cds_length": 11526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435428.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH2",
"gene_hgnc_id": 2948,
"hgvs_c": "c.5511C>G",
"hgvs_p": "p.Val1837Val",
"transcript": "XM_017024219.2",
"protein_id": "XP_016879708.1",
"transcript_support_level": null,
"aa_start": 1837,
"aa_end": null,
"aa_length": 3799,
"cds_start": 5511,
"cds_end": null,
"cds_length": 11400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024219.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 71,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH2",
"gene_hgnc_id": 2948,
"hgvs_c": "c.5511C>G",
"hgvs_p": "p.Val1837Val",
"transcript": "XM_011523670.3",
"protein_id": "XP_011521972.1",
"transcript_support_level": null,
"aa_start": 1837,
"aa_end": null,
"aa_length": 3551,
"cds_start": 5511,
"cds_end": null,
"cds_length": 10656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523670.3"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH2",
"gene_hgnc_id": 2948,
"hgvs_c": "n.*1641C>G",
"hgvs_p": null,
"transcript": "ENST00000574518.1",
"protein_id": "ENSP00000461273.1",
"transcript_support_level": 2,
"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": "ENST00000574518.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH2",
"gene_hgnc_id": 2948,
"hgvs_c": "n.*1641C>G",
"hgvs_p": null,
"transcript": "ENST00000574518.1",
"protein_id": "ENSP00000461273.1",
"transcript_support_level": 2,
"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": "ENST00000574518.1"
}
],
"gene_symbol": "DNAH2",
"gene_hgnc_id": 2948,
"dbsnp": "rs7359662",
"frequency_reference_population": 0.907665,
"hom_count_reference_population": 672803,
"allele_count_reference_population": 1464808,
"gnomad_exomes_af": 0.918215,
"gnomad_genomes_af": 0.806296,
"gnomad_exomes_ac": 1342151,
"gnomad_genomes_ac": 122657,
"gnomad_exomes_homalt": 620501,
"gnomad_genomes_homalt": 52302,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5600000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.029,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_020877.5",
"gene_symbol": "DNAH2",
"hgnc_id": 2948,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5265C>G",
"hgvs_p": "p.Val1755Val"
}
],
"clinvar_disease": "DNAH2-related disorder,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided|DNAH2-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}