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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: 12-123915003-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=123915003&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 123915003,
"ref": "T",
"alt": "C",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000673944.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": 62,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.10722+4T>C",
"hgvs_p": null,
"transcript": "NM_001372106.1",
"protein_id": "NP_001359035.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4589,
"cds_start": -4,
"cds_end": null,
"cds_length": 13770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14039,
"mane_select": "ENST00000673944.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": 62,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.10722+4T>C",
"hgvs_p": null,
"transcript": "ENST00000673944.1",
"protein_id": "ENSP00000501095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4589,
"cds_start": -4,
"cds_end": null,
"cds_length": 13770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14039,
"mane_select": "NM_001372106.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": 61,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.10551+4T>C",
"hgvs_p": null,
"transcript": "ENST00000409039.8",
"protein_id": "ENSP00000386770.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 4532,
"cds_start": -4,
"cds_end": null,
"cds_length": 13599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": 61,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.10368+4T>C",
"hgvs_p": null,
"transcript": "NM_207437.3",
"protein_id": "NP_997320.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4471,
"cds_start": -4,
"cds_end": null,
"cds_length": 13416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": 61,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.10368+4T>C",
"hgvs_p": null,
"transcript": "ENST00000638045.1",
"protein_id": "ENSP00000489675.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 4471,
"cds_start": -4,
"cds_end": null,
"cds_length": 13416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": 61,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.10563+4T>C",
"hgvs_p": null,
"transcript": "XM_011538014.3",
"protein_id": "XP_011536316.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4536,
"cds_start": -4,
"cds_end": null,
"cds_length": 13611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": 61,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.10533+4T>C",
"hgvs_p": null,
"transcript": "XM_011538015.4",
"protein_id": "XP_011536317.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4526,
"cds_start": -4,
"cds_end": null,
"cds_length": 13581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": 61,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.10533+4T>C",
"hgvs_p": null,
"transcript": "XM_011538016.3",
"protein_id": "XP_011536318.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4526,
"cds_start": -4,
"cds_end": null,
"cds_length": 13581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": 60,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.10437+4T>C",
"hgvs_p": null,
"transcript": "XM_017018960.2",
"protein_id": "XP_016874449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4494,
"cds_start": -4,
"cds_end": null,
"cds_length": 13485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": 61,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.10413+4T>C",
"hgvs_p": null,
"transcript": "XM_017018961.2",
"protein_id": "XP_016874450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4486,
"cds_start": -4,
"cds_end": null,
"cds_length": 13461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": 60,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.10386+4T>C",
"hgvs_p": null,
"transcript": "XM_011538017.4",
"protein_id": "XP_011536319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4477,
"cds_start": -4,
"cds_end": null,
"cds_length": 13434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.7563+4T>C",
"hgvs_p": null,
"transcript": "XM_011538019.3",
"protein_id": "XP_011536321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3536,
"cds_start": -4,
"cds_end": null,
"cds_length": 10611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.7482+4T>C",
"hgvs_p": null,
"transcript": "XM_017018962.2",
"protein_id": "XP_016874451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3509,
"cds_start": -4,
"cds_end": null,
"cds_length": 10530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"hgvs_c": "c.4272+4T>C",
"hgvs_p": null,
"transcript": "XM_047428478.1",
"protein_id": "XP_047284434.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2439,
"cds_start": -4,
"cds_end": null,
"cds_length": 7320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAH10",
"gene_hgnc_id": 2941,
"dbsnp": "rs1316952",
"frequency_reference_population": 0.14662963,
"hom_count_reference_population": 22462,
"allele_count_reference_population": 234769,
"gnomad_exomes_af": 0.138719,
"gnomad_genomes_af": 0.221979,
"gnomad_exomes_ac": 201002,
"gnomad_genomes_ac": 33767,
"gnomad_exomes_homalt": 16949,
"gnomad_genomes_homalt": 5513,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.006000000052154064,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.426,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000126298048475721,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000673944.1",
"gene_symbol": "DNAH10",
"hgnc_id": 2941,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.10722+4T>C",
"hgvs_p": null
}
],
"clinvar_disease": "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",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}