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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: 4-36284224-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=36284224&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "DTHD1",
"hgnc_id": 37261,
"hgvs_c": "c.520C>T",
"hgvs_p": "p.Gln174*",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001170700.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.59,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5899999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6551,
"cdna_start": 663,
"cds_end": null,
"cds_length": 2721,
"cds_start": 520,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001170700.3",
"gene_hgnc_id": 37261,
"gene_symbol": "DTHD1",
"hgvs_c": "c.520C>T",
"hgvs_p": "p.Gln174*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000639862.2",
"protein_coding": true,
"protein_id": "NP_001164171.2",
"strand": true,
"transcript": "NM_001170700.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 906,
"aa_ref": "Q",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6551,
"cdna_start": 663,
"cds_end": null,
"cds_length": 2721,
"cds_start": 520,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000639862.2",
"gene_hgnc_id": 37261,
"gene_symbol": "DTHD1",
"hgvs_c": "c.520C>T",
"hgvs_p": "p.Gln174*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001170700.3",
"protein_coding": true,
"protein_id": "ENSP00000492542.1",
"strand": true,
"transcript": "ENST00000639862.2",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 821,
"aa_ref": "Q",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2606,
"cdna_start": 363,
"cds_end": null,
"cds_length": 2466,
"cds_start": 265,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000507598.5",
"gene_hgnc_id": 37261,
"gene_symbol": "DTHD1",
"hgvs_c": "c.265C>T",
"hgvs_p": "p.Gln89*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424426.1",
"strand": true,
"transcript": "ENST00000507598.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 781,
"aa_ref": "Q",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3365,
"cdna_start": 203,
"cds_end": null,
"cds_length": 2346,
"cds_start": 145,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000456874.3",
"gene_hgnc_id": 37261,
"gene_symbol": "DTHD1",
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Gln49*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401597.2",
"strand": true,
"transcript": "ENST00000456874.3",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 944,
"aa_ref": "Q",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4384,
"cdna_start": 660,
"cds_end": null,
"cds_length": 2835,
"cds_start": 520,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000903021.1",
"gene_hgnc_id": 37261,
"gene_symbol": "DTHD1",
"hgvs_c": "c.520C>T",
"hgvs_p": "p.Gln174*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573080.1",
"strand": true,
"transcript": "ENST00000903021.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 915,
"aa_ref": "Q",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4810,
"cdna_start": 650,
"cds_end": null,
"cds_length": 2748,
"cds_start": 520,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000903020.1",
"gene_hgnc_id": 37261,
"gene_symbol": "DTHD1",
"hgvs_c": "c.520C>T",
"hgvs_p": "p.Gln174*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573079.1",
"strand": true,
"transcript": "ENST00000903020.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 915,
"aa_ref": "Q",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6578,
"cdna_start": 663,
"cds_end": null,
"cds_length": 2748,
"cds_start": 520,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011513693.3",
"gene_hgnc_id": 37261,
"gene_symbol": "DTHD1",
"hgvs_c": "c.520C>T",
"hgvs_p": "p.Gln174*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011511995.1",
"strand": true,
"transcript": "XM_011513693.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 894,
"aa_ref": "Q",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6515,
"cdna_start": 663,
"cds_end": null,
"cds_length": 2685,
"cds_start": 520,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011513694.3",
"gene_hgnc_id": 37261,
"gene_symbol": "DTHD1",
"hgvs_c": "c.520C>T",
"hgvs_p": "p.Gln174*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011511996.1",
"strand": true,
"transcript": "XM_011513694.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 852,
"aa_ref": "Q",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6389,
"cdna_start": 663,
"cds_end": null,
"cds_length": 2559,
"cds_start": 520,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011513695.3",
"gene_hgnc_id": 37261,
"gene_symbol": "DTHD1",
"hgvs_c": "c.520C>T",
"hgvs_p": "p.Gln174*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011511997.1",
"strand": true,
"transcript": "XM_011513695.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 616,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5935,
"cdna_start": null,
"cds_end": null,
"cds_length": 1851,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001136536.5",
"gene_hgnc_id": 37261,
"gene_symbol": "DTHD1",
"hgvs_c": "c.17+2195C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001130008.2",
"strand": true,
"transcript": "NM_001136536.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 616,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3203,
"cdna_start": null,
"cds_end": null,
"cds_length": 1851,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000357504.7",
"gene_hgnc_id": 37261,
"gene_symbol": "DTHD1",
"hgvs_c": "c.17+2195C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350103.3",
"strand": true,
"transcript": "ENST00000357504.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 572,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5814,
"cdna_start": null,
"cds_end": null,
"cds_length": 1719,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378435.1",
"gene_hgnc_id": 37261,
"gene_symbol": "DTHD1",
"hgvs_c": "c.17+2195C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365364.1",
"strand": true,
"transcript": "NM_001378435.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 625,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5962,
"cdna_start": null,
"cds_end": null,
"cds_length": 1878,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011513696.3",
"gene_hgnc_id": 37261,
"gene_symbol": "DTHD1",
"hgvs_c": "c.17+2195C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011511998.1",
"strand": true,
"transcript": "XM_011513696.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 595,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5872,
"cdna_start": null,
"cds_end": null,
"cds_length": 1788,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047415676.1",
"gene_hgnc_id": 37261,
"gene_symbol": "DTHD1",
"hgvs_c": "c.17+2195C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047271632.1",
"strand": true,
"transcript": "XM_047415676.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6570,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NR_160267.1",
"gene_hgnc_id": 37261,
"gene_symbol": "DTHD1",
"hgvs_c": "n.663C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_160267.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6722,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NR_165630.1",
"gene_hgnc_id": 37261,
"gene_symbol": "DTHD1",
"hgvs_c": "n.663C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_165630.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XR_007057923.1",
"gene_hgnc_id": 37261,
"gene_symbol": "DTHD1",
"hgvs_c": "n.663C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007057923.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2109437350",
"effect": "stop_gained",
"frequency_reference_population": null,
"gene_hgnc_id": 37261,
"gene_symbol": "DTHD1",
"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": "Benign",
"phylop100way_score": 2.684,
"pos": 36284224,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001170700.3"
}
]
}