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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: 3-32530494-TGC-AGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=32530494&ref=TGC&alt=AGT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DYNC1LI1",
"hgnc_id": 18745,
"hgvs_c": "c.1105_1107delGCAinsACT",
"hgvs_p": "p.Ala369Thr",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_016141.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AGT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 523,
"aa_ref": "A",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2485,
"cdna_start": 1195,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1105,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016141.4",
"gene_hgnc_id": 18745,
"gene_symbol": "DYNC1LI1",
"hgvs_c": "c.1105_1107delGCAinsACT",
"hgvs_p": "p.Ala369Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000273130.9",
"protein_coding": true,
"protein_id": "NP_057225.2",
"strand": false,
"transcript": "NM_016141.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 523,
"aa_ref": "A",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2485,
"cdna_start": 1195,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1105,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000273130.9",
"gene_hgnc_id": 18745,
"gene_symbol": "DYNC1LI1",
"hgvs_c": "c.1105_1107delGCAinsACT",
"hgvs_p": "p.Ala369Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016141.4",
"protein_coding": true,
"protein_id": "ENSP00000273130.4",
"strand": false,
"transcript": "ENST00000273130.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 550,
"aa_ref": "A",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1761,
"cdna_start": 1195,
"cds_end": null,
"cds_length": 1653,
"cds_start": 1186,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891300.1",
"gene_hgnc_id": 18745,
"gene_symbol": "DYNC1LI1",
"hgvs_c": "c.1186_1188delGCAinsACT",
"hgvs_p": "p.Ala396Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561359.1",
"strand": false,
"transcript": "ENST00000891300.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 520,
"aa_ref": "A",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2406,
"cdna_start": 1123,
"cds_end": null,
"cds_length": 1563,
"cds_start": 1096,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954370.1",
"gene_hgnc_id": 18745,
"gene_symbol": "DYNC1LI1",
"hgvs_c": "c.1096_1098delGCAinsACT",
"hgvs_p": "p.Ala366Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624429.1",
"strand": false,
"transcript": "ENST00000954370.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 513,
"aa_ref": "A",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2425,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1075,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954369.1",
"gene_hgnc_id": 18745,
"gene_symbol": "DYNC1LI1",
"hgvs_c": "c.1075_1077delGCAinsACT",
"hgvs_p": "p.Ala359Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624428.1",
"strand": false,
"transcript": "ENST00000954369.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 446,
"aa_ref": "A",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2254,
"cdna_start": 964,
"cds_end": null,
"cds_length": 1341,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891299.1",
"gene_hgnc_id": 18745,
"gene_symbol": "DYNC1LI1",
"hgvs_c": "c.874_876delGCAinsACT",
"hgvs_p": "p.Ala292Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561358.1",
"strand": false,
"transcript": "ENST00000891299.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 409,
"aa_ref": "A",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1310,
"cdna_start": 799,
"cds_end": null,
"cds_length": 1230,
"cds_start": 763,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918076.1",
"gene_hgnc_id": 18745,
"gene_symbol": "DYNC1LI1",
"hgvs_c": "c.763_765delGCAinsACT",
"hgvs_p": "p.Ala255Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588135.1",
"strand": false,
"transcript": "ENST00000918076.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 407,
"aa_ref": "A",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2137,
"cdna_start": 847,
"cds_end": null,
"cds_length": 1224,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001329135.2",
"gene_hgnc_id": 18745,
"gene_symbol": "DYNC1LI1",
"hgvs_c": "c.757_759delGCAinsACT",
"hgvs_p": "p.Ala253Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316064.1",
"strand": false,
"transcript": "NM_001329135.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 407,
"aa_ref": "A",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1827,
"cdna_start": 847,
"cds_end": null,
"cds_length": 1224,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000432458.6",
"gene_hgnc_id": 18745,
"gene_symbol": "DYNC1LI1",
"hgvs_c": "c.757_759delGCAinsACT",
"hgvs_p": "p.Ala253Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407279.2",
"strand": false,
"transcript": "ENST00000432458.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2301,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1134,
"cds_start": 667,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047448246.1",
"gene_hgnc_id": 18745,
"gene_symbol": "DYNC1LI1",
"hgvs_c": "c.667_669delGCAinsACT",
"hgvs_p": "p.Ala223Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304202.1",
"strand": false,
"transcript": "XM_047448246.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 503,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2467,
"cdna_start": null,
"cds_end": null,
"cds_length": 1512,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891298.1",
"gene_hgnc_id": 18745,
"gene_symbol": "DYNC1LI1",
"hgvs_c": "c.1081-168_1081-166delGCAinsACT",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561357.1",
"strand": false,
"transcript": "ENST00000891298.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 646,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000472985.1",
"gene_hgnc_id": 18745,
"gene_symbol": "DYNC1LI1",
"hgvs_c": "n.535_537delGCAinsACT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000472985.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4791,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000481915.5",
"gene_hgnc_id": 18745,
"gene_symbol": "DYNC1LI1",
"hgvs_c": "n.3493_3495delGCAinsACT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000481915.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 18745,
"gene_symbol": "DYNC1LI1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.941,
"pos": 32530494,
"ref": "TGC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_016141.4"
}
]
}